Genetic Testing (GENET TEST)

Publications in this journal

• Article: The polymorphisms on Igkappa gene are related to susceptibility of breast cancer and gastric cancer.

  Duosha Hu, Sun Tong, Ren Wei, Zheng Hui, Liu Haidan, Duan Zhi, Li Lili, Tan Wen, Zhao Dan, Liu Yanfeng, Lin Dongxin, Cao Ya
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  ABSTRACT: The phenomenon of immunoglobulin (Ig) expression in cancer cells has been discovered recently; the Ig protein expressed and secreted in cancer cells was found to be in favor of tumor growth. Two single-nucleotide polymorphism (SNP) loci rs232230 (5658C/G) and rs232228 (3635T/C) were identified on Igkappa gene previously, and we have demonstrated that they were associated with nasopharyngeal carcinoma susceptibility. In the present study, we further performed the study focused on these two SNPs in gastric and breast cancer, trying to demonstrate the association between the genotypes of the two SNPs and the susceptibility of gastric cancer and breast cancer. Our results suggested that the 5658-G allele and 3635-C allele were risk factors for both gastric cancer (odds ratio [OR]: 1.64 and 1.67, respectively) and breast cancer (OR: 1.94 and 1.56, respectively). Further, we also identified that they were related to other risk factors, including Helicobacter pylori (Hp) infection in gastric cancer and age in breast cancer.
  Genetic Testing 01/2009; 12(4):575-80.
• Article: Prevalence of prothrombotic polymorphisms in Greece.

  Argyri Gialeraki, Marianna Politou, Loukianos Rallidis, Efrosyni Merkouri, Christos Markatos, Dimitrios Kremastinos, Anthi Travlou
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  ABSTRACT: The aim of this study was to assess the prevalence of several polymorphisms in genes that are involved in several pathways such as hemostasis, fibrinolysis, platelet membrane receptor activity, endothelial integrity and function, lipid metabolism, and regulation of blood pressure in healthy subjects of Greek origin. Most of these polymorphisms are mainly associated with conditions such as venous thromboembolism and atherothrombosis, and their prevalence has not been studied yet in Greece. We tested 140 healthy individuals for factor V (FV)1691G/A, FV4070G/A, FII 20210G/A, factor XIII (FXIII) exon 2G/T, fibrinogen beta-455G/A, plasminogen activator inhibitor-1 (PAI-1)-675 4G/5G, human platelet antigens 1 (HPA1) a/b, apolipoprotein B (ApoB) 10708 G/A, apolipoprotein E (ApoE) E2, E3, and E4, angiotensin-converting enzyme (ACE) D/I, 5,10 methylenetetrahydrofolate reductase (MTHFR) 677C/T, and MTHFR 1298A/C polymorphisms using a PCR and reverse hybridization technique that detects all of them simultaneously. The allele frequencies observed are in accordance with those reported in other Caucasian populations and almost identical to those of East Mediterranean populations. This first report from Greece may serve as a baseline for planning further investigations of these polymorphisms in association with several clinical entities and for launching guidelines for patient testing of various disease settings in this population.
  Genetic Testing 01/2009; 12(4):541-7.
• Article: Development and pilot testing of a decision aid for men considering genetic testing for breast and/or ovarian cancer-related mutations (BRCA1/2).

  Anne S Juan, Claire E Wakefield, Nadine A Kasparian, Judy Kirk, Janet Tyler, Kathy Tucker
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  ABSTRACT: Despite the fact that both men and women can carry a breast/ovarian cancer-related mutation, the main emphasis in genetic counseling for breast/ovarian cancer-related risk remains on females. This study aimed to develop and pilot a decision aid specifically designed for men with a strong family history of breast and/or ovarian cancer who are considering genetic testing. The decision aid was developed by a multidisciplinary team of experts and a consumer representative. It was then reviewed by 27 men who had previously undergone genetic testing to identify a mutation in a BRCA1 or BRCA2 gene. All men who reviewed the decision aid indicated that they would recommend the booklet to other men in the same situation, and 96% of the sample (n = 26) reported being "very satisfied" or "satisfied" with the information contained in the decision aid. The decision aid was perceived by all participants as "very relevant" or "quite relevant" for men considering genetic testing. Ninety-three percent of men felt that it was easy to weigh the pros and cons of genetic testing with the help of the decision aid. The perceived impact on participants' emotions and understanding of the genetic testing process was also assessed. Several factors may hinder men from effectively weighing up the potential benefits and risks of genetic testing. A greater understanding of these issues may help health professionals to encourage men with a strong family history of breast and/or ovarian cancer to learn about cancer risk and the appropriate management strategies for themselves and their female relatives.
  Genetic Testing 01/2009; 12(4):523-32.
• Article: A known SOST gene mutation causes sclerosteosis in a familial and an isolated case from Brazilian origin.

  Chong Ae Kim, Rachel Honjo, Débora Bertola, Lílian Albano, Luiz Oliveira, Sumatra Jales, José Siqueira, Arthur Castilho, Wendy Balemans, Elke Piters, Karen Jennes, Wim Van Hul
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  ABSTRACT: Sclerosteosis is a severe, rare, autosomal recessive bone condition that is characterized by a progressive craniotubular hyperostosis. The main features are a significant sclerosis of the long bones, ribs, pelvis, and skull, leading to facial distortion and entrapment of cranial nerves. Clinical features include a tall stature, nail dysplasia, cutaneous syndactyly of some fingers, and raised intracranial pressure. The sclerosteosis gene has been mapped to chromosome 17q12-21 and is currently known as the SOST gene encoding the sclerostin protein. Here, we report on one familial and one isolated case of Brazilian origin with the clinical and molecular diagnosis of sclerosteosis. The radiological and clinical features are described, and the diagnosis of sclerosteosis was confirmed in both cases by mutation analysis of the SOST gene showing a homozygous nonsense mutation (Trp124X) in the two patients. We reported this mutation previously in other sclerosteosis patients from a consanguineous Brazilian family. Interestingly, all three families were from the same state in Brazil, but they denied familial relationship. These patients confirm the clinical picture as found in other cases with a loss of function mutation in the SOST gene.
  Genetic Testing 01/2009; 12(4):475-9.
• Article: Barriers to genetic testing among persons at risk for alpha-1 antitrypsin deficiency.

  Marguerite R Dickson, Cindy L Carter, Matthew J Carpenter, Rebecca L McClure, Dawn A McGee, Jane G Zapka, Charlie Strange
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  ABSTRACT: The alpha coded testing (ACT) study offers free and confidential testing for alpha-1 antitrypsin deficiency (AATD) and includes surveys to provide data to study the psychosocial correlates of genetic testing. The purpose of the current study is to better understand reasons why some individuals complete genetic testing while others do not. Survey measures were compared between participants who requested and returned a genetic test for AATD (n = 703), and a random sample of individuals who requested a test kit, but did not return it within 3 months of their request (n = 83). Increasing decile of age (odds ratio [OR] = 0.74 [95% confidence interval = 0.60-0.82]) and fingerstick fear (OR = 0.74 [0.60-0.93]) were associated with a decreased likelihood of returning the test, while assurance of confidentiality was associated with an increased likelihood (OR = 1.26 [1.01-1.57]) of returning the genetic test. General anxiety as measured by the Beck Anxiety Inventory, family functioning as measured by the general functioning subscale of the Family Assessment Device, and stress induced by genetic testing as measured by the Impact of Events Scale did not significantly differ between responder groups (p = not significant). Results of this study help characterize factors driving genetic testing in AATD and may offer insight into population responses with other genetic tests.
  Genetic Testing 01/2009; 12(4):501-5.
• Article: Quantitative fluorescent-PCR detection of sex chromosome aneuploidies and AZF deletions/duplications.

  Toso Plaseski, Predrag Noveski, Svetlana Trivodalieva, Georgi D Efremov, Dijana Plaseska-Karanfilska
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  ABSTRACT: The most common genetic causes of spermatogenic failure are sex chromosomal abnormalities (most frequently Klinefelter's syndrome) and deletions of the azoospermia factor (AZF) regions (AZFa, AZFb, and AZFc) of the Y chromosome. Several studies have proposed that partial AZFc deletions/duplications may be a risk factor for spermatogenic impairment. We describe a multiplex quantitative fluorescent-polymerase chain reaction (QF-PCR) method that allows simultaneous detection of these genetic causes and risk factors of male infertility. The 11-plex QF-PCR permitted the amplification of the amelogenin gene, four polymorphic X-specific short tandem repeat (STR) markers (XHPRT, DXS6803, DXS981, and exon 1 of the androgen receptor gene), nonpolymorphic Y-specific marker (SRY gene), polymorphic Y-specific STR marker (DYS448), and coamplification of DAZ/DAZL, MYPT2Y/MYPT2, and two CDY2/CDY1 fragments that allow for determination of the DAZ, MYPT2Y, and CDY gene copy number. A total of 357 DNA samples from infertile/subfertile men (n = 205) and fertile controls (n = 152) was studied. We detected 14 infertile males with sex chromosome aneuploidy (10 with Klinefelter's syndrome, 2 XX, and 2 XYY males). All previously detected AZF deletions, that is, AZFc (n8), AZFb (n1), AZFb + c (n1), gr/gr (n11), gr/gr with b2/b4 duplication (n3), and b2/b3 (n5), gave a specific pattern with the 11-plex QF-PCR. In addition, 32 DNA samples showed a pattern consistent with presence of gr/gr or b2/b4 and 4 with b2/b3 duplication. We conclude that multiplex QF-PCR is a rapid, simple, reliable, and inexpensive method that can be used as a first-step genetic analysis in infertile/subfertile patients.
  Genetic Testing 01/2009; 12(4):595-605.
• Article: A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus.

  Xiang He, Feng Gu, Ze Wang, Chong Wang, Yi Tong, Yujing Wang, Juhua Yang, Wei Liu, Meng Zhang, Xu Ma
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  ABSTRACT: Idiopathic congenital nystagmus (ICN) is a common oculomotor disorder characterized by bilateral involuntary, periodic, and predominantly ocular oscillations. X-linked ICN (XLICN) with incomplete penetrance in females is the most common inheritance form, and FERM domain containing (FRMD7) mutation is the major reason for XLICN families. To date, 39 FRMD7 mutations have been identified, and 50% of the XLICN pedigrees have yielded FRMD7 mutations in the Western population. In this study, we identified a novel frameshift mutation (c.1274-1275delTG) in the FRMD7 gene in six XLICN pedigrees. Incorporated with data reported from other two Chinese groups, approximately 47% XLICN pedigrees were caused by the FRMD7 mutation in China. Therefore, this study showed that mutation analysis of the FRMD7 gene had diagnostic value not only in the Western population but also in one of the biggest Eastern populations, Chinese XLICN families. In addition, the results indicated the type of FRMD7 mutation associated with the penetrance of female carriers of XLICN.
  Genetic Testing 01/2009; 12(4):607-13.
• Article: Killer cell immunoglobulin-like receptor (KIR) genotypes in patients with recurrent tonsillitis.

  Mohamad Bitar, Roy Khalaf, Wael Shamseddeen, Nady El Hajj, Georges Ibrahim, Layal Greige, Ghazi Zaatari, Nabil Fuleihan, Amira Sabbagh, Rami Mahfouz
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  ABSTRACT: This study represents the first report on the distribution of killer cell immunoglobulin-like receptor (KIR) genotype among recurrent tonsillitis patients. We recruited 34 Lebanese pediatric patients diagnosed with recurrent tonsillitis and had their DNA typed using sequence-specific primer technique for the presence of 16 KIR loci. We observed that 25 different KIR genotypes were present similar to the general control population with the same KIR gene content. There was no statistically significant difference in the distribution of the activating and inhibitory KIR genes between the two categories. Like in the general control population, we noted a predominance of the AB genotype; however, the KIR genotypic distribution among the tonsillitis patients was much more heterogeneous with even new genotypes not reported in the control group. Although the sample size is small, this first study observes an interesting heterogeneous KIR gene profile in recurrent tonsillitis that warrants larger and further research in the area for the true biological and clinical significance of this observation.
  Genetic Testing 01/2009; 12(4):517-21.
• Article: Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay.

  Ying-Xia Cui, Xin-Yi Xia, Ying Bu, Guo-Hua Zhou, Bin Yang, Hong-Yong Lu, Yi-Chao Shi, Lian-Jun Pan, Yu-Feng Huang, Xiao-Jun Li
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  ABSTRACT: Heterozygous mutations of COL2A1 gene are responsible for type II collagenopathies. The common skeletal phenotypes include achondrogenesis type II, hypochondrogenesis, Stickler dysplasia, Kniest dysplasia, late onset spondyloepiphyseal dysplasia, and spondyloepiphyseal dysplasia congenita (SEDC). Prevention of SEDC can be achieved by prenatal diagnosis. This study reports the first rapid molecular prenatal diagnosis of SEDC performed in China by polymerase chain reaction sequence-specific primer (PCR-SSP) analysis. The pregnant woman we previously reported with SEDC carried the G to A substitution at nucleotide 1510 in exon 23 of COL2A1 gene, which caused a change from glycine to serine at codon 504 (G504S). By the time the woman got pregnant again, she had terminated two pregnancies and still had no child. In the first pregnancy, the molecular mutation of the family was not yet identified, and therefore prenatal diagnosis was unable to be performed by DNA analysis. In the second pregnancy, G504S mutation was found from fetal DNA. At the time of her third pregnancy, the woman and her husband became extremely worried about the potential SEDC for the fetus. For this reason, a quick and reliable molecular prenatal diagnosis of SEDC was performed by a PCR-SSP on an amniocyte sample collected at the 14th week of pregnancy. No mutation of the fetal DNA was identified. The result was obtained within 24 h after the sample was collected. The technique could be applied in confirmatory diagnosis and prenatal diagnosis for the affected family.
  Genetic Testing 01/2009; 12(4):533-6.
• Article: Molecular prenatal diagnosis of muscular dystrophies in Tunisia and postnatal follow-up role.

  Olfa Siala, Fatma Kammoun Feki, Nacim Louhichi, Ikhlass Hadj Salem, Moez Gribaa, Hatem Elghzel, Ali Saad, Chahnez Triki, Faiza Fakhfakh
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  ABSTRACT: We undertook in this study the first successful prenatal diagnoses of MDC1A and LGMD2C forms in Africa, with a subsequent postnatal clinical follow-up of the newborns. Genetic and molecular studies were performed on cultured amniotic fluid cells after exclusion of maternal cell contamination. Immunofluorescence on the patients' muscle biopsies was performed so as to study the expression of muscular laminins. Results showed that normal and affected fetuses were diagnosed according to the presence or the absence of the responsible mutation in LAMA2 or SGCG genes. Postnatal molecular and clinical outcome was concordant with all prenatal diagnoses. However, a patient with MDC1A form of congenital muscular dystrophy who was diagnosed as affected was normal at birth, and developed later clinical features different from those observed in his severely affected elder brother. This intrafamilial clinical variability in two siblings occurring with the same mutation in LAMA2 gene emphasizes the importance of the postnatal follow-up in the confirmation of prenatal diagnosis, and suggests that other genetic or epigenetic factors can monitor the course of the MDC1A form.
  Genetic Testing 01/2009; 12(4):581-6.
• Article: Co-occurrence of sporadic parkinsonism and late-onset Alzheimer's disease in a Brazilian male with the LRRK2 p.G2019S mutation.

  Cíntia B Santos-Rebouças, Cláudia B Abdalla, Fábio José R Baldi, Paloma A Martins, Juliana C Corrêa, Andressa P Gonçalves, Marcela S Cunha, Margarete B Borges, João S Pereira, Jerson Laks, Márcia M G Pimentel
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  ABSTRACT: Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene represent the most common known genetic cause of inherited and idiopathic Parkinson's disease (PD) in different populations. The predicted multifunctionality of LRRK2 product and the pleomorphic pathology associated with LRRK2 mutations place this gene as a potential candidate for other neurodegenerative disorders, mainly Alzheimer's disease (AD). We report a Brazilian male expressing both late-onset AD and slowly progressive parkinsonism signs, and who presented the most frequent LRRK2 mutation (p.G2019S). Although the co-occurrence of PD and AD would be expected occasionally, the shared mechanisms between the two complex disorders are still unclear and are discussed herein. In light of recent findings about the wide role of LRRK2 under normal and pathological conditions, it is tempting to speculate that LRRK2 mutations might play an upstream influence on the etiology of not just PD but also several alpha-synuclein and tau pathologies, including AD.
  Genetic Testing 01/2009; 12(4):471-3.
• Article: Information and consent in internet paternity testing: focus on minors' protection in Italy.

  Luciana Caenazzo, Pamela Tozzo, Paolo Benciolini, Daniele Rodriguez
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  ABSTRACT: Paternity testing in Italy is usually performed by private laboratories and universities having direct contacts with the applicants. Recently, the number of paternity tests offered through laboratory websites has increased in Italy and Europe. The execution of genetic tests, including paternity testing based on DNA analysis, represents a complex act, which contains three main steps. Paternity analyses carried out by laboratories via Internet are performed on samples collected by the applicants and then mailed back to the laboratories without any patient-physician relationship. Information is given to the subjects through the laboratory's website or mailed with the test order form. The execution of "household" DNA analysis without technical precautions may provide an incorrect response with severe consequences on the individual who has undergone testing, on the family involved, and on society in general. The problems connected with this kind of analysis are not technical, but ethical and deontological. In this work, we will discuss the problems related to information and consent by way of outlining the relevant Italian laws and codes of medical ethics. The Italian Privacy's Guarantor is assessing the ethical and legal implications, but regulations are not yet in place. We believe that adequate information related to this practice cannot be given via Internet, and, consequently, the validity of the consent expressed during this kind of procedure can be uncertain. Further, we will analyze issues regarding the importance of minors' protection when a paternity test is performed via Internet. In our opinion, the complexity of the situations and expectations linked to paternity investigations require a special sensitivity in dealing with each case, based on a patient-physician relationship in the decision-making process especially referring to the defense of the minors' well-being.
  Genetic Testing 12/2008; 12(4):507-11.
• Article: Vitamin D receptor gene polymorphism and osteoporosis in the Turkish population.

  Ali Riza Uysal, Mustafa Sahin, Alptekin Gürsoy, Sevim Güllü
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  ABSTRACT: Osteoporosis is one of the most important medical problems facing the aging population. It is defined as a decrease in the bone mass leading to an unacceptably high risk of fractures. Osteoporosis is a multifactorial disease. It is well established that genetic factors are involved in the pathogenesis of osteoporosis. Polymorphism of the vitamin D receptor (VDR) gene has been reported to play a major role in variations for genetic regulation of bone mass. Its role within various ethnic populations is not clear. The purpose of this project was to determine the frequencies of VDR genotypes in Turkey. Three polymorphisms of the VDR gene were analyzed using the polymerase chain reaction-restriction fragment length polymorphism technique. The sample for our study was comprised of postmenopausal women in Turkey, 100 of whom were diagnosed with osteoporosis. They were compared with 146 healthy controls. BsmI genotype frequencies in Turks resemble Caucasians rather than Asians, and Taq genotype frequencies in Turks neither resemble Caucasians nor Asians. The genotype frequencies of VDR were not statistically different between patients with osteoporosis and the control group. Among VDR haplotypes, bbAATT and bbTtAa are more frequent in the osteoporosis group than the control group.
  Genetic Testing 12/2008; 12(4):591-4.
• Article: One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2.

  Hirofumi Kojima, Takahito Wada, Hiroshi Seki, Takeo Kubota, Keiko Wakui, Yoshimitsu Fukushima
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  ABSTRACT: Multiple osteochondromas (MO; also referred to as hereditary multiple exostoses [HME] in the literature) is an autosomal dominant disorder characterized by benign, cartilage-capped bone tumors that grow from the metaphyses of long bones. Two genes are associated with this disease: EXT1 on 8q24.11-q24.13 and EXT2 on 11p12-p11. Mutations in EXT1 and EXT2 are found in 54-96% of patients with MO and are generally more frequent in EXT1 than in EXT2. We previously studied 43 Japanese families with MO using single-strand conformation polymorphism analysis for EXT1 and EXT2, and reported 23 families (54%) with mutations and 20 families (46%) with no mutations in these genes. Among the families with mutations, 17 families (40%) had mutations in EXT1, and 6 families (14%) had mutations in EXT2. Here we examined the same 43 Japanese families using denaturing high-performance liquid chromatography as an alternative technique. We detected five mutations, three of which are novel, in seven families in addition to the previously described mutations. In summary, we detected mutations in EXT1 or EXT2 in 30 (70%) out of 43 families. Our result suggests the presence of other gene(s) responsible for MO, at least in Japanese patients.
  Genetic Testing 12/2008; 12(4):557-61.
• Article: Carrier frequencies of mutations/polymorphisms in the connexin 26 gene (GJB2) in the Moroccan population.

  Omar Abidi, Redouane Boulouiz, Halima Nahili, Khadija Bakhouch, Lahcen Wakrim, Hassan Rouba, Abdelaziz Chafik, Mohammed Hassar, Abdelhamid Barakat
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  ABSTRACT: Mutations in the Connexin 26 gene (GJB2/Cx26) are responsible for more than half of all cases of prelingual nonsyndromic recessive deafness in Caucasians. The carrier frequency of the 35delG-GJB2 mutation was found to be as high as 2-4% in the Mediterranean populations. Different GJB2 mutations were reported in the Moroccan patients with autosomal recessive nonsyndromic hearing loss; however, rare studies were carried out on the carrier frequencies of these mutations in the healthy populations. The aim of this study was to estimate the carrier frequencies of the GJB2 mutations in the Moroccan population. The molecular analysis of the 35delG mutation and other GJB2 sequence variations was performed in 386 healthy unrelated Moroccan individuals with no known hearing loss. Five GJB2 sequence variations at heterozygous state were found: two mutations, 35delG and 109G > A (V37I), and three polymorphisms, 79G > A (V27I), 341G > A (E114G), and 457G > A (V153I). The carrier frequency of the 35delG mutation was the highest with 2.07% [95% confidence interval (0.90-4.04%)], followed by that of the V37I mutation with 1.43% (0.06-5.39). The carrier frequency of V27I, E114G, and V153I changes was estimated to be 0.71% (0.01-4.34). This finding shows that the 35delG carrier frequency found here is similar to the one observed in Mediterranean populations. It provides new information about GJB2 carrier rates facilitating the diagnosis and the genetic counseling in the Moroccan population.
  Genetic Testing 12/2008; 12(4):569-74.
• Article: NKX2.5/NKX2.6 mutations are not a common cause of isolated type 1 truncus arteriosus in a small cohort of multiethnic cases.

  Maher Khetyar, Lorna Tinworth, Petros Syrris, Lulu Abushaban, Yousef Abdulazzaq, Margherita Silengo, Julene Carvalho, Nicholas Carter
  Genetic Testing 11/2008; 12(4):467-9.
• Article: Screening for hemochromatosis and iron overload: satisfaction with results notification and understanding of mailed results in unaffected participants of the HEIRS study.

  Helen F Harrison, Barbara W Harrison, Ann P Walker, Kurt Lohman, Shellie D Ellis, Mark A Hall, Jacob Reiss, Paul C Adams, Joan Holup, Ronald T Acton, Thomas Bent, Charles Rivers, Margaret Fadojutimi-Akinsiku
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  ABSTRACT: The purpose of this study was to assess the level of satisfaction and understanding of test results, by a sample of non-C282Y homozygous participants in the hemochromatosis and iron overload screening (HEIRS) study, who received serum ferritin (SF), transferrin saturation (TS), and HFE gene test results by mail. Approximately 1 month after receiving test results by mail, participants were surveyed about understanding of and satisfaction with results notification. Overall, participants were satisfied with receiving test results by mail. Participants receiving results with one or two HFE mutations or TS and/or SF levels outside the normal range (an "alert value") were less likely to be satisfied with this method of notification. Participants with normal HFE test results understood their results and recommendations better than those with one or two mutations. Although all participants received results letters in their native language, English-speaking participants had higher mean understanding scores than Mandarin, Vietnamese, or Spanish-speaking participants. Participants were satisfied with receiving test results by mail. However, the level of understanding of the results was not sufficient for this mode of results notification to stand alone, especially for non-English speaking participants, and all participants with one or more test results outside the normal range.
  Genetic Testing 11/2008; 12(4):491-500.
• Article: Molecular basis of beta-thalassemia in Morocco: possible origins of the molecular heterogeneity.

  Imane Agouti, Catherine Badens, Ahmed Abouyoub, Nicolas Levy, Mohcine Bennani
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  ABSTRACT: We present the molecular spectrum of beta-thalassemia in the Moroccan population obtained by the identification of molecular defects responsible for this disease, and herewith we show that the Moroccan population is genetically heterogeneous; 18 different mutations have been found in the 158 beta-globin chromosomes studied. Eight mutations [codon 39 (C --> T), FSC-8 (-AA), IVS-II-745 (C --> G), -29 (A --> G), FSC-6 (-A), IVS-I-110 (G --> A), IVS-I-2 (T --> C), and IVS-I-1 (G --> A)] out of 18 beta-thalassemia mutations identified accounted for 76% of the Moroccan beta-thalassemia chromosomes. Restriction fragment length polymorphism (RFLP) haplotype analysis showed that the observed genetic diversity originated from both new mutational events and gene flow due to migration.
  Genetic Testing 11/2008; 12(4):563-8.
• Article: Interpopulation variation frequency of human inosine 5'-monophosphate dehydrogenase type II (IMPDH2) genetic polymorphisms.

  M F Mohamed, Reginald F Frye, Taimour Y Langaee
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  ABSTRACT: Inosine monophosphate dehydrogenase type II (IMPDH2) is the target for immunosuppression by mycophenolic acid and has been linked to resistance of tumor cells to chemotherapy. Determining the frequency of IMPDH2 genetic polymorphisms can inform the design of clinical studies investigating the impact of IMPDH2 genetic variability on both cancer therapy and immunosuppression. Frequencies of three IMPDH2 polymorphisms (rs4974081, rs5848860, and rs11557540) in >400 DNA samples from four different racial/ethnic groups (Caucasian, African American, Hispanic, and Asian populations) were characterized by the pyrosequencing genotyping method. For rs5848860 1591 CTT/- (500 G/EG) and rs11557540 1345 A/G (418 D/G), we did not observe any variant alleles in all DNA samples from these populations, which suggests that these variants could simply be sequencing errors rather than real polymorphisms. The observed frequency of the 5'-upstream single-nucleotide polymorphism (SNP) rs4974081 A/G was similar to that previously reported in the NCBI databank (dbSNP). An in silico functional analysis using FASTSNP predicts that this promoter SNP rs4974081 (-3624 A/G) could be a potential transcription factor binding site. This finding suggests that rs4974081 could be a good candidate SNP for association studies with immunosuppressive and chemotherapeutic therapy outcomes.
  Genetic Testing 11/2008; 12(4):513-6.