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ABSTRACT: Trichothiodystrophy (TTD) is a rare, recessive condition involving multiple organs and systems. Four genes associated with nuclear excision repair have been described in the molecular etiology of TTD. There is a significant heterogeneity of clinical and laboratory findings of TTD, even in individuals carrying the same mutation. Worldwide, approximately 120 cases have been reported, mostly from Western populations and the mutations are compound heterozygous. We herein present clinical and laboratory findings of a female patient with a homozygous mutation, R722W, in the XPD gene. To date, two patients who carry the same mutation have been reported. Our genotype-phenotype correlation study showed patients who carry R722W mutation have a more severe TTD phenotype than other types of mutations.
The Journal of Dermatology 10/2012; · 1.49 Impact Factor
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Gianluca Caridi,
Monica Dagnino,
Marco Di Duca,
Filiz Akyuz,
Gungor Boztas,
Fatih Besisik,
Kadir Demir,
Asli Ormeci,
Suut Gokturk, Kivanc Cefle,
Şukru Ozturk,
Sukru Palanduz,
Monica Campagnoli,
Monica Galliano,
Lorenzo Minchiotti
Clinica chimica acta; international journal of clinical chemistry 02/2012; 413(9-10):950-1. · 2.54 Impact Factor
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ABSTRACT: Polymorphisms of the x-ray repair cross-complementing group 1 (XRCC1) gene have been reported to be associated with various forms of cancer. We evaluated the possible effects of the Arg194Trp and the Arg399Gln polymorphisms on the risk for chronic lymphocytic leukemia (CLL) in 73 patients and 50 controls. We also analyzed their relation to frequency of sister chromatid exchange (SCE). With respect to codon 194, the allelic frequency of the Arg194Trp polymorphism did not significantly differ between the 2 groups. The proportion of individuals carrying the Arg194Trp polymorphism was not different in the 2 groups. With respect to codon 399, the proportion of the individuals carrying the Arg399Gln allele (90% vs 62%; p=0.000; odds ratio [OR], 5.779; 95% confidence interval [CI], 2.2-15.183) and the allelic frequency of the Arg399Gln polymorphism (56% vs 36%; p=0.002; OR, 2.278; 95% CI, 1.350-3.843) was significantly higher in the patient group. The frequency of the Arg/Gln genotype was significantly higher in the patient group (68.50% vs 52%; p=0.049; OR, 2.007; 95% CI, 0.955-4.217). The mean SCE frequency in the patient group was significantly higher (9.2±4 vs 7.5±2; p=0.02). When different compound genotypes were compared, the coexistence of Arg/Arg genotype in codon 194 with Arg/Arg genotype in codon 399 was significantly more frequent in the control group (30% vs 9%; p=0.004; OR, 0.247; 95% CI, 0.092-0.664). Within the patient group, SCE frequency did not differ between patients with various genotypes. The Arg399Gln polymorphism may be etiologically associated with CLL; however, it does not seem to increase SCE frequency.
Genetic Testing and Molecular Biomarkers 11/2011; 16(4):287-91. · 1.11 Impact Factor
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Monica Dagnino,
Gianluca Caridi,
Zeki Aydin,
Savas Ozturk,
Zeynep Karaali,
Rumeyza Kazancioglu, Kivanc Cefle,
Meltem Gursu,
Monica Campagnoli,
Monica Galliano,
Lorenzo Minchiotti
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ABSTRACT: Analbuminemia is a rare autosomal recessive disorder manifested by the absence, or severe reduction, of circulating serum albumin. The analbuminemic trait was diagnosed in a young Turkish woman on the basis of her clinical symptoms (bilateral lower limb edema) and biochemical findings (minimal albumin amount and variable increases in other protein fractions).
Total DNA from the analbuminemic proband and her parents was PCR-amplified using oligonucleotide primers designed to amplify the 14 exons of the albumin gene (ALB) and the flanking intron regions. The products were screened for mutations by single-strand conformation polymorphism (SSCP) and heteroduplex analyses (HA).
HA allowed the identification of the mutation site in exon 12. Direct DNA sequencing of this abnormal fragment revealed that the analbuminemic trait was caused by a homozygous CA deletion at nucleotide positions c. 1614-1615 in the codons for Cys538 and Thr539. The subsequent frameshift should give rise to a putative truncated albumin variant in which the sequence Cys(538)-Thr-Leu-Ser has been changed to Cys(538)-Thr-Phe-Stop. The parents were heterozygous for the same mutation.
Gel-based mutation detection and DNA sequencing substantiate the clinical diagnosis of congenital analbuminemia in our patient and show that the condition is caused by a novel mutation within the ALB gene. These results contribute to shed light on the molecular basis of this rare condition.
Clinica chimica acta; international journal of clinical chemistry 11/2010; 411(21-22):1711-5. · 2.54 Impact Factor
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Katrin Friedrich,
Lin Lee,
Dru F Leistritz,
Gudrun Nürnberg,
Bidisha Saha,
Fuki M Hisama,
Daniel K Eyman,
Davor Lessel,
Peter Nürnberg,
Chumei Li, [......],
Sukru Ozturk,
Norberto López,
Theda Wessel,
Martin Poot,
P F Ippel,
Birgit Groff-Kellermann,
Holger Hoehn,
George M Martin,
Christian Kubisch,
Junko Oshima
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ABSTRACT: Werner syndrome (WS) is an autosomal recessive segmental progeroid syndrome caused by null mutations at the WRN locus, which codes for a member of the RecQ family of DNA helicases. Since 1988, the International Registry of Werner syndrome had enrolled 130 molecularly confirmed WS cases from among 110 worldwide pedigrees. We now report 18 new mutations, including two genomic rearrangements, a deep intronic mutation resulting in a novel exon, a splice consensus mutation leading to utilization of the nearby splice site, and two rare missense mutations. We also review evidence for founder mutations among various ethnic/geographic groups. Founder WRN mutations had been previously reported in Japan and Northern Sardinia. Our Registry now suggests characteristic mutations originated in Morocco, Turkey, The Netherlands and elsewhere.
Human Genetics 07/2010; 128(1):103-11. · 5.07 Impact Factor
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Sukru Palanduz,
Aysegul Bayrak,
Sema Sirma,
Burcak Vural, Kivanc Cefle,
Ali Ucur,
Sukru Ozturk,
Mustafa Nuri Yenerel,
Sevgi K Besisik,
Selim Yavuz,
Reyhan Diz-Kucukkaya,
Deniz Sargin,
Meliha Nalcaci,
Yuksel Pekcelen,
Ugur Ozbek
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ABSTRACT: We aimed to compare the cytogenetic and molecular analyses in the assessment of imatinib mesylate response in patients suffering the chronic phase of chronic myelocytic leukemia who were refractory to alpha-interferon treatment. A total of 117 patients in the chronic phase of chronic myelocytic leukemia were included. The patients were treated with 400 mg/day imatinib mesylate. Bone marrow samples were obtained for the cytogenetic and molecular analyses. Patients without the Ph chromosome were defined as complete cytogenetic responders. Partial cytogenetic response was determined when the Ph chromosome was detected in 1-35% of the cells. Molecular response was determined by quantitative real-time reverse transcriptase polymerase chain reaction (QR-PCR) and defined as no detection of BCR-ABL mRNA. The frequencies of complete and partial cytogenetic response were 29% (n = 34) and 15% (n = 18), respectively. No cytogenetic response was achieved in 56% (n = 65) of the patients. Molecular response was achieved in 62% (n = 21) and 33% (n = 6) of the complete and partial cytogenetic responders, respectively. All of the 65 patients with no cytogenetic response were also molecular nonresponders. We conclude that there is reasonable agreement between the cytogenetic and molecular analyses. Both methods are complementary in the assessment of response to therapy.
Genetic Testing and Molecular Biomarkers 10/2009; 13(5):599-602. · 1.11 Impact Factor
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Ahmet Bilge Sozen, Kivanc Cefle,
Hasan Kudat,
Sukru Ozturk,
Huseyin Oflaz,
Vakur Akkaya,
Sukru Palanduz,
Seref Demirel,
Mustafa Ozcan,
Taner Goren,
Ozen Guven
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ABSTRACT: Turner's syndrome (TS), the most frequent congenital anomaly in newborn girls, is associated with various cardiovascular abnormalities, predominantly bicuspid aortic valves and aortic coarctation. The causes of the left ventricular hypertrophy (LVH) and ECG findings associated with TS are unknown. We used echocardiography to assess cardiac structure and function in normotensive patients with TS.
Thirty-one patients with TS and 30 healthy women were enrolled in this comparative study. Twelve-lead ECG, 24-hour-ambulatory ECG recording, and echocardiography were performed.
With 24-hour-ambulatory ECG recording, the mean heart rate (HR) of TS women was higher than non-TS women. With echocardiographic examination, the interventricular septum diastolic thickness, left ventricle posterior wall diastolic thickness (LVPW), the LV mass index (LVMI), and left atrial diameter index (LADi) were significantly higher in TS women compared with controls. Mitral flow A velocity was significantly higher and the ratio of early to late diastolic filling was significantly lower in TS patients.
HR, LV wall thicknesses, LVMI and the LADi are significantly increased in normohypertensive TS women. There is also subclinical diastolic dysfunction in these patients.
Echocardiography 06/2009; 26(8):943-9. · 1.24 Impact Factor
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ABSTRACT: Non-steroidal anti-inflammatory drugs (NSAID) are frequently used in oral surgical procedures in dentistry. The evaluation of the frequency of sister chromatid exchange (SCE) is accepted as a reliable cytogenetic method to assess the genotoxic effects of environmental factors.
In this study, the genotoxic effects of various NSAIDs were assessed in 30 patients to who they were administered following encluosed third molar surgery using SCE analysis before and after the operation. The frequency of SCE was evaluated before the operation and after 3 days of etodolac, nimesulid and naproxen use.
There was no statistically significant difference in the frequency of SCE between the preoperative and postoperative states in patients given etodolac, nimesulid or naproxen sodium.
Short term use of selective and non-selective NSAIDs was not associated with a significant genotoxic effect that could be detected using the SCE method in peripheric lymphocytes.
Yonsei Medical Journal 11/2008; 49(5):742-7. · 1.14 Impact Factor
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ABSTRACT: Bloom syndrome is an autosomal recessive disorder characterized by proportionate short stature, photosensitivity, immunodeficiency, hypogonadism and a tendency to develop various malignancies. The greatly increased frequency of sister chromatid exchanges (reciprocal exchange of homologous segments between the two sister chromatids of a chromosome) is regarded as pathognomonic for BS. We describe an 18-year old girl who presented with short stature. She was diagnosed with BS based on an extremely increased frequency of sister chromatid exchanges. Ophthalmological examination revealed mild lens opacities bilaterally, which, to our knowledge, has not been previously reported to be associated with BS.
Ophthalmic Genetics 10/2007; 28(3):175-8. · 0.93 Impact Factor
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Alessia Deglincerti,
Roberto De Giorgio, Kivanc Cefle,
Marcella Devoto,
Tommaso Pippucci,
Giovanni Castegnaro,
Emanuele Panza,
Giovanni Barbara,
Rosanna F Cogliandro,
Zeynel Mungan,
Sukru Palanduz,
Roberto Corinaldesi,
Giovanni Romeo,
Marco Seri,
Vincenzo Stanghellini
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ABSTRACT: Chronic idiopathic intestinal pseudo-obstruction (CIIP) is a rare and severe clinical syndrome characterized by symptoms and signs of intestinal occlusion, in the absence of any mechanical obstruction of the gut lumen. In the attempt to identify the genetic basis of CIIP, we analyzed a Turkish pedigree with a high degree of consanguinity in which three siblings presented with a syndromic form of CIIP. All affected family members were characterized by recurrent, self-limiting subocclusive episodes, long-segment Barrett esophagus, and a variety of minor cardiac valve or septal defects. In some patients full-thickness intestinal biopsy samples were obtained and tissues were processed for immunohistochemistry using antibodies to different markers of the intestinal neuromuscular tract. Full-thickness biopsies of the gut wall showed abnormalities of both the neural and muscular components suggesting an underlying intestinal neuro-myopathy. Blood samples were collected for DNA extraction from each available family member and DNAs were genotyped using 382 microsatellites spanning the entire genome with the aim to take advantage of the homozygosity mapping approach. Linkage analysis identified a new syndromic locus on chromosome 8q23-q24 (multipoint LOD score=5.01). Our data strongly support the presence of a new genetic locus associated with CIIP, long-segment Barrett esophagus, and cardiac involvement on chromosome 8.
European Journal of HumanGenetics 09/2007; 15(8):889-97. · 4.40 Impact Factor
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ABSTRACT: The aim of this study was to investigate the genotoxic effect on the peripheral blood lymphocytes potentially induced by yttrium-90 citrate colloid (Y-90) in children who were undergoing radiosynovectomy for hemophilic synovitis, using chromosomal aberration analysis (CA) and the micronuclei (MN) assay for detecting chromosomal aberrations, as well as the sister chromatid exchanges (SCE) technique for assessed DNA damage.
Cytogenetic analyses were undertaken in 18 boys (mean age, 14.5 +/- 2.1 years) with hemophilic synovitis who underwent radiosynovectomy with Y-90. CA, MN, and SCE were evaluated just prior to, then at 2 and 90 days following radiosynovectomy from the peripheral lymphocytes of the children. An activity of 185 MBq of Y-90 was injected into the 18 knee joints under aseptic conditions. To check the possibility of leakage from the joint and its migration within the body, the patients underwent scanning under a dual-headed gamma camera at the hours 2 and 48 following the procedure.
The procedure was well tolerated in all the children, and there was no extra-articular activity owing to extra-articular leakage of radioactive material in whole-body imaging. The mean frequency of CA in lymphocytes determined prior to the onset of therapy (0.31 +/- 0.48/900 cells) was not significantly increased, in comparison to the control values obtained 2 (0.30 +/- 0.48/900 cells) and 90 days (0.15 +/- 0.37/900 cells) after radiosynovectomy (p = 1.0 and 0.625, respectively). We observed that MN frequency was mildly increased in lymphocytes 2 days after therapy (8.30 +/- 1.89 MN/1000 binucleated cells vs. 9.23 +/- 1.79 MN/1000 binucleated cells; p = 0.013). But there was no significant difference between the baseline and the day 90 control levels of MN (p = 0.196). In the analysis of SCE frequency, there were no significant differences between the baseline (8.11 +/- 0.77) and the control analysis performed 2 and 90 days following radiosynovectomy (8.18 +/- 0.77 and 8.07 +/- 0.74; p = 0.710 and 0.662, respectively).
The results of this study indicated that high radiation doses are not obtained by peripheral lymphocytes of children who undergo Y-90 radiosynovectomy and, therefore, they contradict a high cancer risk.
Cancer Biotherapy and Radiopharmaceuticals 07/2007; 22(3):393-9. · 1.79 Impact Factor
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ABSTRACT: It is well known that various constituents of blood, especially lipids and proteins, and hematological parameters are altered in chronic liver diseases. These alterations have been shown to affect rheological parameters in various studies. However, it is not clear whether the etiology of chronic liver has any specific influence on flow dynamics of blood. In the present study, we analysed erythrocyte rigidity (ER), whole blood and plasma viscosity, and other factors related to blood rheology (including hematological parameters, plasma lipids and proteins) in healthy controls (n=20) and patients with post hepatitic and alcoholic cirrhosis (n=15 in each group). ER was significantly higher (p<0.05) in both groups compared to controls. Although blood viscosity was found to be low in both groups, the difference reached statistical significance only in patients with alcoholic cirrhosis. On the other hand, when compared to controls, plasma viscosity was significantly lower in patients with alcoholic cirrhosis and significantly higher in patients with posthepatitic cirrhosis (p<0.05). When we compare post hepatic and alcoholic cirrhosis with each other, there was no significant difference in ER between the two groups.
Clinical hemorheology and microcirculation 01/2007; 36(3):247-52. · 3.40 Impact Factor
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ABSTRACT: The well-known increased risk of breast cancer (BC) in first-degree relatives of patients with BC has been related to shared genetic factors including defective DNA repair, with loss of genomic integrity. On the other hand, it can be hypothesized that early-onset breast cancer is also associated with overburden of heritable factors leading to increased DNA injury. In this respect, we analyzed sister chromatid exchange frequency (SCE) in 20 women with breast cancer (all < or =40 years old), in their first-degree female relatives, and in 20 age-matched healthy females without a personal or family history of cancer. SCE was significantly increased (P < 0.05) in patients (7.17 +/- 1.81 per metaphase) and in their first-degree relatives (6.44 +/- 0.98), compared with controls (5.85 +/- 0.72). There was no difference in SCE frequency between patients and their first-degree relatives. We suggest that the increased SCE in patients reflects a genomic instability that may be operative in carcinogenesis. Further, genomic instability is shared also by first-degree relatives, although none of them had a history of breast cancer at the time of the study.
Cancer Genetics and Cytogenetics 11/2006; 171(1):65-7. · 1.39 Impact Factor
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ABSTRACT: Juvenile hyaline fibromatosis (JHF) is a rare systemic disease characterized by papulonodular skin lesions, gingival hyperplasia, joint contractures, and osteolytic lesions on long bones and the skull. It has recently been reported that the disease is caused by mutations in the gene encoding capillary morphogenesis protein-2 (CMG-2). To date, fewer than 60 cases have been published in the literature. Partial disease expression is common, but no cases featuring a solitary calvarial lesion have been reported. The authors discuss this 4-year-old boy with a solitary calvarial osteolytic lesion whose histopathological examination exhibited findings characteristic of JHF. Mutational analysis, however, revealed that there were no mutations in the CMG-2 gene. Two years after surgery, he was free of any complaints as well as gingival hyperplasia, joint contractures, and new skull or skin lesions. This patient's condition may represent clinical or genetic heterogeneity associated with JHF. Whether solitary lesions mimicking JHF can arise from somatic mutation of the CMG-2 gene remains to be proven.
Journal of Neurosurgery 10/2005; 103(3 Suppl):285-8. · 2.96 Impact Factor
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Fatih Tufan, Kivanc Cefle,
Seval Türkmen,
Aydin Türkmen,
Unal Zorba,
Memduh Dursun,
Sükrü Oztürk,
Sükrü Palandüz,
Tevfik Ecder,
Stefan Mundlos,
Denise Horn
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ABSTRACT: Autosomal recessive Robinow syndrome is caused by mutations in ROR2 and is characterized by short stature, mesomelic limb shortening, brachydactyly, vertebral abnormalities, and a characteristic "fetal face" dysmorphology. We report the clinical and molecular studies on two adults with this condition. Besides typical skeletal and facial features, one patient developed hydronephrosis, nephrocalcinosis, and renal failure. The second patient had characteristic skeletal manifestations including severe spinal involvement and showed endocrinological abnormalities including elevated gonadotropic hormones. The facial phenotype in both patients remained distinctive into adulthood. Analysis of the ROR2 gene revealed a homozygous c.1937_1943delACAAGCT mutation in Patient 1, and compound heterozygosity for c.355C > T (p.R119X). and c.550C > T (p.R184C) in Patient 2.
American Journal of Medical Genetics Part A 07/2005; 136(2):185-9. · 2.39 Impact Factor
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ABSTRACT: Many studies have shown that diabetes mellitus is associated with increased whole and blood viscosity and decreased erythrocyte deformability. It has been suggested that these abnormalities in blood rheology may play a causative role in the pathogenesis of diabetic vascular complications. However, less is known about the content and quality of membrane proteins which may contribute to abnormalities in membrane dynamic and decreased erythrocyte deformability. In the present study we analysed various rheological parameters (blood and plasma viscosity, erythrocyte deformability, haemotological parameters), in cats with non-insulin dependent diabetes mellitus (NIDDM). We also investigated alterations in erythrocyte membrane protein content by sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE). We found that erythrocyte rigidity and plasma and whole blood viscosities were significantly higher in cats with NIDDM compared to controls. SDS-PAGE revealed that the band 5 corresponding to actin was weaker while band 4.5 corresponding to integral membrane proteins (glycophorin A, B and C) had disappeared. Also, band 4.9, which is composed of dematin (a protein with actin-bundling capacity) was lost. We suggest that the observed abnormalities in membrane proteins may play a role in reduced erythrocyte deformability associated with diabetes mellitus.
Clinical hemorheology and microcirculation 02/2005; 33(2):81-8. · 3.40 Impact Factor
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ABSTRACT: Analbuminemia is a rare autosomal recessive disorder in which individuals have little or no circulating albumin, usually the most abundant plasma protein. We describe a new mutation associated with analbuminemia.
We studied four apparently unrelated patients who had congenital analbuminemia: two of Amerindian and two of Turkish origin. The 14 exons and the flanking intron sequences of the albumin gene were amplified by PCR and screened for mutations by single-strand conformational polymorphism and heteroduplex analysis. The mutated DNA fragments were sequenced directly.
In all four cases, analbuminemia was caused by the same mutation, an AT deletion at nucleotides 2430-2431, the 91st and 92nd bases of exon 3. This novel defect, named Kayseri, produces a frameshift leading to a premature stop two codons downstream. The predicted translation product would consist of 54 amino acid residues.
The AT deletion at nucleotides 2430-2431 is a novel mutation associated with analbuminemia.
Clinical Chemistry 07/2002; 48(6 Pt 1):844-9. · 7.91 Impact Factor
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ABSTRACT: The effects of statins have been investigated mostly in hyperlipidemic states so far. We analysed blood cholesterol, triglyceride, albumin, fibrinogen and gammaglobulin levels, haematocrite, hemoglobin, erythrocyte, leukocyte and platelet counts, blood and plasma viscosity and erythrocyte rigidity in 12 rabbits fed on a normal diet (chow) which were given 1 mg/kg/day atorvastatin for 4 weeks. Compared to the baseline levels, erythrocyte rigidity (k=0.12+/-0.05 vs. k=0.7+/-0.02) and gammaglobulin levels (1.03+/-0.23 g/dl vs. 0.78+/-0.27 g/dl) decreased significantly (p=0.008 and p=0.025, respectively). Blood lipids, hematological variables, blood and plasma viscosity did not change statistically. Our findings imply that in a normolipemic state, statins given in low doses may improve erythrocyte rigidity without altering blood lipids in short term. Decreased plasma gammaglobulin levels may be reflecting their immunomodulatory effects.
Clinical hemorheology and microcirculation 02/2002; 26(4):265-71. · 3.40 Impact Factor
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ABSTRACT: We analyzed rheologic parameters, including erythrocyte rigidity (ER), whole blood and plasma viscosity, erythrocyte and platelet count, hemoglobin, hematocrit, mean corpuscular volume (MCV), fibrinogen, erythrocyte sedimentation rate (ESR), cholesterol, triglyceride, high-density lipoprotein (HDL), low-density lipoprotein (LDL), very-low density lipoprotein (VLDL), and gamma globulin levels in 18 patients with chronic liver disease and 20 healthy volunteers. Fifteen patients had cryptogenic cirrhosis while 3 had chronic active hepatitis. ER and MCV was significantly higher in the patient group than the control group while whole blood and plasma viscosities were significantly lower. There were significant correlations between ER and blood and plasma viscosity, ER and MCV, plasma and blood viscosity, HDL and plasma viscosity and a negative correlation between ER and ESR. Our results demonstrate that erythrocytes become more rigid in chronic liver disease. We suggest that erythrocytes with increased rigidity can impair hepatic microvascular circulation and thus contribute to liver dysfunction.
Clinical hemorheology and microcirculation 02/2002; 26(1):9-14. · 3.40 Impact Factor
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ABSTRACT: Telomeric sequences, located at the very end of the chromosomes, compensate for the chromosomal shortening as it happens after each round of cell division. Telomeric sequences influence the progress of cellular senescence and cancer progression. It has been reported that telomeres are shortened in acute leukemias where the cell turnover is high. B-cell chronic lymphocytic leukemia (CLL) is a particularly interesting haematological malignancy in regard to telomere dynamics because most of the malignant cells in CLL are mitotically inactive. In this study, we analysed the telomere length in patients with B-cell CLL in a comparison with the control group by using ddPRINS technique. Twenty patients with CLL and four healthy donors as a control group were included. We found short telomeres and no detectable telomeric repeats at the sites of chromosome fusion. We hypothesise that the telomeric erosion in CLL may reflect the dominance of malignant cells with an abnormally long life span. These cells may have encountered many antigenic stimulants in the past and hence underwent multiple clonal expansions. Our findings imply that shortened telomeres in CLL may be reflecting the "history" of the disease and serve as an independent prognostic factor.
European Journal of Medical Genetics 49(1):63-9. · 2.18 Impact Factor
