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Mitochondrial DNA haplogroups and the Risk of Sporadic Parkinson＇s Disease in Han Chinese

Chinese Medical Journal 2015年第13期128卷 1748-1754页

作者： Ya-Fang Chen Wan-Jin Chen Xiao-Zhen Lin Qi-Jie Zhang Jiang-Ping Cai Chia-Wei Liou Ning Wang Department of Neurology and Institute of Neurology First Affiliated Hospital Fujian Medical University Fuzhou Fujian 350005 China Fujian Key Laboratory of Molecular Neurology Fuzhou Fujian 350005 China Department of Neurology Mitochondrial Research Unit Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine Kaohsiung Taiwan China

Background： Mitochondrial dysflmction is linked to the pathogenesis of Parkinson＇s disease （PD）. However, the precise role of mitochondrial DNA （mtDNA） variations is obscure. On the other hand, mtDNA haplogroups have been inconsistently reported to modify the risk of PD among differeni population. Here, we try to explore the relationship between mtDNA haplogroups and sporadic PD in a Han Chinese population. Methods： Nine single-nucleotide polymorphisms, which define the major Asian mtDNA haplogroups （A, B, C, D, F, G）, were detected via polymerase chain reaction-restriction fragment length polymorphism or denaturing polyacrylamide gel electrophoresis in 279 sporadic PD patients and 510 matched controls of Hart population. Results： Overall, the distribution ofmtDNA haplogroups did not show any significant differences between patients and controls. However, alter stratification by age at onset, the frequency of haplogroup B was significantly lower in patients with early-onset PD （EOPD） compared to the controls （odds ratio [OR] =0.225, 95% confidence interval [CI]： 0.082-0.619, P 0.004）, while other haplogroups did not show significant differences. Alter stratification by age at examination, among subjects younger than 50 years of age： Haplogroup B also showed a lower frequency in PD cases （OR = 0. 146, 95% CI： 0.030-0.715~ P = 0.018） while haplogroup D presented a higher risk of PD （OR - 3.579, 95% CI： 1. 112-11.523, P = 0.033）, other haplogroups also did not show significant differences in the group. Conclusions： Our study indicates that haplogroup B might confer a lower risk for EOPD and people younger than 50 years in Han Chinese, while haplogroup D probably lead a higher risk of PD in people younger than 50 years of age. In brief particular Asian mtDNA haplogroups likely play a role in the pathogenesis of PD among Hart Chinese.

关键词： l-tan Chinese haplogroups Mitochondrial DNA Parkinson's Disease

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AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men

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Asian Journal of Andrology 2007年第5期9卷 674-678页

作者： Laila Imken Brahim El Houate Abdelaziz Chafik Halima Nahili Redouane Boulouiz Omar Abidi Elbakkay Chadli Noureddine Louanjli Abdelouhab Elfath Mohammed Hassar Ken McElreavey Abdelhamid Barakat Hassan Rouba Human Genetic and Cytogenetic Unit Research Department Pasteur Institute of Morocco Ezzahraoui 20100 CasablancaMorocco Laboratory of Anthropogenetic and Biostatistic University Chouaib Doukkali 299 Eljadida 24000 Morocco In Vitro Fecondation Center 40 Rue Prince Moulay Abedelah 20 000 Casablanca Morocco Reproduction Fertility and Population Unit Developmental Biology Department Pasteur Institute 25 Rue Docteur Roux Paris France

Aim： To evaluate for the first time the frequency of Y chromosome microdeletions and the occurrence of the partial deletions of AZFc region in Moroccan men, and to discuss the clinical significance of AZF deletions. Methods： We screened Y chromosome microdeletions and partial deletions of the AZFc region of a consecutive group of infertile men （n = 149） and controls （100 fertile men, 76 normospermic men）. AZFa, AZFb, AZFc and partial deletions of the AZFc region were analyzed by polymerase chain reaction （PCR） according to established protocols. Results： Among the 127 infertile men screened for microdeletion, four subjects were found to have microdeletions： two AZFc deletions and two AZFb＋AZFc deletions. All the deletions were found only in azoospermic subjects （4/48, 8.33%）. The overall AZFc deletion frequency was low （4/127, 3.15%）. AZF microdeletions were not observed in either oligoasthenoteratozoospermia （OATS） or the control. Partial deletions of AZFc （gr/gr） were observed in a total of 7 of the 149 infertile men （4.70%） and 7 partial AZFc deletions （gr/gr） were found in the control group （7/176, 3.98%）. In addition, two b2/b3 deletions were identified in two azoospermic subjects （2/149, 1.34%） but not in the control group. Conclusion： Our results suggest that the frequency of Y chromosome AZF microdeletions is elevated in individuals with severe spermatogenic failure and that gr/gr deletions are not associated with spermatogenic failure.

关键词： Y microdeletions haplogroups gr/gr infertility bi-allelic markers

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