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ABSTRACT: Duchenne muscular dystrophy (DMD) is X-linked disorder caused by mutations in the dystrophin gene. To investigate mutation types and distribution characteristics of dystrophin gene in Chinese DMD patients, we used Multiplex Ligation-Dependent Probe Amplification (MLPA) to analyze the dystrophin gene in 720 DMD patients, their mothers, and 20 normal adult males. Results showed that detection rate was 64.9% (467/720) in all the patients, gene deletion rate was 54.3% (391/720), and gene duplication rate was 10.6% (76/720). The rate of deletion mutant occurred in Exon 45-54 was 71.9% (281/391) in all gene deletion patients; meanwhile, the rate of gene duplication occurred in Exon 1-40 was 82.9% (63/76) in all gene duplication ones. In all the patients with gene deletion and duplication, the rate of DMD and IMD was 90.6% (423/467), and BMD, 9.4% (44/467). This indicates that the main reason of duchenne muscular dystrophy is dystrophin gene deletion mutation, which would occur in any gene unevenly with hot spots of mutation. The location and fragment length of gene deletion and duplication cannot decide the severity of clinical symptoms directly.
Hereditas (Beijing) 03/2011; 33(3):251-4.
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ABSTRACT: Discussion of the relationship between Mycoplasma and chlamydia infection and lesions in the cervical tissue in high-risk HPV-positive infertile patients with cervical.
HPV-negative patients with cervical as the control, retrospective analysis the relationship of Mycoplasma hominis and chlamydia infection, cervical histological graded, and inflammation graded.
The rate of HPV infection in mycoplasma-positive and those with negative mycoplasma has significant difference (P < 0.01), The rate of HPV infection in chlamydia-positive and those with negative chlamydia has no significant difference (P > 0.05). CIN and the incidence of cervical erosion and CIN grade were higher in HPV-positive than HPV-negative group (P < 0.01). The cervical erosion of HPV-positive was no difference in the degree (P > 0.05). Compared with the simple HPV-positive group, CIN and the incidence of severe cervical erosion in mixed infection of Mycoplasma was no difference (P > 0.05).
Mycoplasma infection increases the rate of high risk HPV infection, high-risk HPV infection increased cervical pathological damage, Mycoplasma infection might be the factor of persistent infection with high risk HPV, the degree of cervical pathological is the factor of cervical infertility which can not be ignored.
Zhonghua shi yan he lin chuang bing du xue za zhi = Zhonghua shiyan he linchuang bingduxue zazhi = Chinese journal of experimental and clinical virology 10/2010; 24(5):346-8.
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ABSTRACT: Explore the optimal treatment of infertility patients infected with different types of human papillomavirus (HPV).
According to cervical pathology, cervical status and the procreate desire of the infertility patients, the 144 clinic cases of high-risk human papillomavirus infected infertile patients were divided into two gruoups: group with treatment and without treatment. Real-time quantitative fluorescent PCR (RT-PCR) has been employed, follow-up time is 6 months, to detect the HPV-DNA in the crevical exfoliated cells, to observe the negative conversion rate and pregnancy rate, and compare analyzed.
(1) In high-risk HPV infectors, the negative conversion rate of treatment group (56.67%) is higher than those in non-treatment group (50.00%); (2) The pregnancy rate of secondary high-risk HPV non-treatment group (50.00%) is higher than the treatment group. The pregnancy rate of primary high-risk HPV treatment group (31.67%) is higher than the non-treatment group (4.00%). (3) Negative conversion rate increases accordingly, on primary high-risk HPV infected groups with Leep, with single drug and with Leep combined with drug therapy. (4) The negative conversion rate and the pregnancy rate of primary high-risk HPV infected groups with surgical therapy is higher than the groups with drug therapy. Surgical + Drugs is better in the two surgical therapies.
Infertile patients should be routinely screened for cervical HPV. The primary high-risk cervical HPV infection is the etiology of infertility. Preferably, patients with primary high-risk HPV infection in cervical lesions is treated with Leep combined drugs.
Zhonghua shi yan he lin chuang bing du xue za zhi = Zhonghua shiyan he linchuang bingduxue zazhi = Chinese journal of experimental and clinical virology 06/2010; 24(3):227-9.
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Ya-ni Zhang,
Cheng Zhang,
Hui-yu Feng,
Xiao-fang Sun,
Xi-lin Lu,
Shao-ying Li, Hui-min Zhang,
Mei-shan Li,
Mei-juan Yu,
Shu-hui Wang,
Hui Huang,
Zhong Li,
Ben-chang Shen
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ABSTRACT: To investigate the clinical and lab features of sibling brother and sister both with Duchenne muscular dystrophy (DMD).
We conducted comprehensive clinical and lab investigations including the test of serum enzymes, electromyography (EMG), electrocardiography, color Doppler echocardiography, HE staining of skeletal muscles, immunohistochemical study of dystrophin and utrophin, multiple ligation probe amplification (MLPA) on exon 1-79 of dystrophin gene, and short tandem repeat-poly- merase chain reaction of CA repeats located in dystrophin gene.
These two patients were confirmed to suffer from DMD. They were characterized by typical features of DMD including typical clinical manifestations, increased serum enzymes, EMG presenting myogenic impairment, HE staining presentation belonging to DMD, negative dystrophin in brother, and inconstantly positive on the sarcolemma of sister. Furthermore, no deletion or duplication was found in the 1-79 exons of dystrophin gene. The suffering brother and sister carried the same maternal X chromosome.
Carriers of DMD gene show typical clinical and laboratory manifestations of DMD. Comprehensive examinations should be performed for such carriers.
Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae 09/2007; 29(4):543-7.
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ABSTRACT: To detect genomic deletion and duplication mutations in the dystrophin gene of the Duchenne muscular dystrophy (DMD) patients and their potential female carriers.
Genomic deletions and duplications of the DMD gene in 32 affected males and 27 potential female carriers were screened by mutiplex ligation-dependent probe amplification (MLPA).
Of the 32 investigated affected males, 24 were detected to have deletions of one or more exons of the DMD gene, 1 patient had a duplication from exon 5 to 55, 1 patient had a nonsense point mutation (R768X) in exon 19, the other 6 affected males were predicted to have possible disease-causing point mutations. MLPA analysis showed a DMD deletion or duplication in 18 female relatives, and the female carriers had the same deletion or duplication as their probands, respectively.
MLPA analysis is proven to be an efficient tool for identification of both affected males and female carriers of DMD rearrangements in cases in which the disease-causing mutation in the affected male was not known. It could provide useful information for the genetic counseling of the family involved.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 09/2007; 24(4):460-3.
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ABSTRACT: High risk human papilomavirus (HPV) infection is often related to cervical cancer. This study investigated the infection of high risk HPV in cervical epithelia among infertile patients. Relative quantification and absolute quantification were applied for determination of "real" HPV viral load in the clinical setting.
Adopting multi-channels real time PCR to genotype and quantify eight high risk HPV (HPV16, 18, 45, 31; intermediate risk types: HPV33, 52, 58, 67) DNA in cervical epithelia of the 130 infertile patients and the 150 controls. This study applied housekeeping gene (beta-globin) for the DNA quantification on secretions samples for clinical diagnosis.
The infection rate of the infertility group was 25.38 percent (33/130) and that of the control group was 11.33 percent (17/150), the difference was statistically significant. Among the 33 positive cases in the infertility group, 24 cases showed a viral load no less than 106; in 9 of them, the viral load was less than 106. Among the 17 positive cases in the control group, 4 cases had a viral load no less than 106; in 13 of them, the viral load was less than 106. There is a statistically significant difference in viral load between the infertility group and the control group.
The HPV infection rate of the infertility group was higher than that of the control group.
Zhonghua shi yan he lin chuang bing du xue za zhi = Zhonghua shiyan he linchuang bingduxue zazhi = Chinese journal of experimental and clinical virology 07/2007; 21(2):159-61.
