6 results on '"Ya-Ping Zhang"'
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2. Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G--a mutation
- Author
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Hans-Jürgen Bandelt, Shiqiang Li, Xiangming Guo, Qingjiong Zhang, Ya-Ping Zhang, Xueshan Xiao, Yanli Ji, Xiaoyun Jia, Yong-Gang Yao, and A-Mei Zhang
- Subjects
Male ,Mitochondrial DNA ,genetic structures ,Genetic counseling ,Mitochondrial disease ,Molecular Sequence Data ,Optic Atrophy, Hereditary, Leber ,Biology ,medicine.disease_cause ,DNA, Mitochondrial ,Haplogroup ,Sex Factors ,Asian People ,Report ,Genetics ,medicine ,Humans ,Genetics(clinical) ,Family ,Gene ,Genetics (clinical) ,Mutation ,Sequence Analysis, DNA ,medicine.disease ,Penetrance ,eye diseases ,Pedigree ,Haplotypes ,Female ,Human mitochondrial DNA haplogroup - Abstract
Leber hereditary optic neuropathy (LHON) is the most extensively studied mitochondrial disease, with the majority of the cases being caused by one of three primary mitochondrial DNA (mtDNA) mutations. Incomplete disease penetrance and gender bias are two features of LHON and indicate involvement of additional genetic or environmental factors in the pathogenesis of the disorder. Haplogroups J, K, and H have been shown to influence the clinical expression of LHON in subjects harboring primary mutations in European families. However, whether mtDNA haplogroups would affect the penetrance of LHON in East Asian families has not been evaluated yet. By studying the penetrance of LHON in 1859 individuals from 182 Chinese families (including one from Cambodia) with the m.11778G--A mutation, we found that haplogroup M7b1'2 significantly increases the risk of visual loss, whereas M8a has a protective effect. Analyses of the complete mtDNA sequences from LHON families with m.11778G--A narrow the association of disease expression to m.12811T--C (Y159H) in the NADH dehydrogenase 5 gene (MT-ND5) in haplogroup M7b1'2 and suggest that the specific combination of amino acid changes (A20T-T53I) in the ATP synthase 6 protein (MT-ATP6) caused by m.8584G--A and m.8684C--T might account for the beneficial background effect of M8a. Protein secondary-structure prediction for the MT-ATP6 with the two M8a-specific amino acid changes further supported our inferences. These findings will assist in further understanding the pathogenesis of LHON and guide future genetic counseling in East Asian patients with m.11778G--A.
- Published
- 2008
3. Mitochondrial DNA Haplogroups M7b1'2 and M8a Affect Clinical Expression of Leber Hereditary Optic Neuropathy in Chinese Families with the m.11778G→A Mutation.
- Author
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Yanli Ji, A-Mei Zhang, Xiaoyun Jia, Ya-Ping Zhang, Xueshan Xiao, Shiqiang Li, Xiangming Guo, Bandelt, Hans-Jurgen, Qingjiong Zhang, and Yong-Gang Yao
- Subjects
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NEUROPATHY , *GENETIC disorders , *MITOCHONDRIAL pathology , *DNA , *GENETIC mutation , *AMINO acids , *CHINESE people , *GENETICS , *DISEASES - Abstract
Leber hereditary optic neuropathy (LHON) is the most extensively studied mitochondrial disease, with the majority of the cases being caused by one of three primary mitochondrial DNA (mtDNA) mutations. Incomplete disease penetrance and gender bias are two features of LHON and indicate involvement of additional genetic or environmental factors in the pathogenesis of the disorder. Haplogroups J, K, and H have been shown to influence the clinical expression of LHON in subjects harboring primary mutations in European families. However, whether mtDNA haplogroups would affect the penetrance of LHON in East Asian families has not been evaluated yet. By studying the penetrance of LHON in 1859 individuals from 182 Chinese families (including one from Cambodia) with the m.11778G→A mutation, we found that haplogroup M7b1'2 significantly increases the risk of visual loss, whereas M8a has a protective effect. Analyses of the complete mtDNA sequences from LHON families with m.11778G →A narrow the association of disease expression tom. 12811T→C (Y159H) in the NADHdehydrogenase 5 gene (MT-NDS) in haplogroup M7b1'2 and suggest that the specific combination of amino acid changes (A20T-T531) in the ATP synthase 6 protein (MT-ATP6) caused by m.8584G→A and m.8684C→T might account for the beneficial background effect of M8a. Protein secondary-structure prediction for the MT-ATP6 with the two M8a-specific amino acid changes further supported our inferences. These findings will assist in further understanding the pathogenesis of LHON and guide future genetic counseling in East Asian patients with m.11778G→A. [ABSTRACT FROM AUTHOR]
- Published
- 2008
- Full Text
- View/download PDF
4. Phylogeny of Mitochondrial DNA Macrohaplogroup N in India, Based on Complete Sequencing: Implications for the Peopling of South Asia.
- Author
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Palanichamy, Malliya Gounder, Chang Sun, Agrawal, Suraksha, Bandelt, Hans-Jürgen, Qing-Peng Kong, Khan, Faisal, Cheng-Ye Wang, Chaudhuri, Tapas Kumar, Palla, Venkatramana, and Ya-Ping Zhang
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MITOCHONDRIAL DNA , *PHYLOGENY , *NUCLEOTIDE sequence , *DNA , *GENETIC polymorphisms - Abstract
To resolve the phylogeny of the autochthonous mitochondrial DNA (mtDNA) haplogroups of India and determine the relationship between the Indian and western Eurasian mtDNA pools more precisely, a diverse subset of 75 macrohaplogroup N lineages was chosen for complete sequencing from a collection of >800 control-region sequences sampled across India. We identified five new autochthonous haplogroups (R7, R8, R30, R31, and N5) and fully characterized the autochthonous haplogroups (R5, R6, N1d, U2a, U2b, and U2c) that were previously described only by first hypervariable segment (HVS-I) sequencing and coding-region restriction-fragment-length polymorphism analysis. Our findings demonstrate that the Indian mtDNA pool, even when restricted to macrohaplogroup N, harbors at least as many deepest-branching lineages as the western Eurasian mtDNA pool. Moreover, the distribution of the earliest branches within haplogroups M, N, and R across Eurasia and Oceania provides additional evidence for a three-founder-mtDNA scenario and a single migration route out of Africa. [ABSTRACT FROM AUTHOR]
- Published
- 2004
- Full Text
- View/download PDF
5. Phylogeny of East Asian Mitochondrial DNA Lineages Inferred from Complete Sequences.
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Qing-Peng Kong, Yong-Gang Yao, Chang Sun, Bandelt, Hans-Jürgen, Chun-Ling Zhu, and Ya-Ping Zhang
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MITOCHONDRIAL DNA , *GENOMICS , *PHYLOGENY , *PHYLOGEOGRAPHY - Abstract
The now-emerging mitochondrial DNA (mtDNA) population genomics provides information for reconstructing a well-resolved mtDNA phylogeny and for discerning the phylogenetic status of the subcontinentally specific haplogroups. Although several major East Asian mtDNA haplogroups have been identified in studies elsewhere, some of the most basal haplogroups, as well as numerous minor subhaplogroups, were not yet determined or fully characterized. To fill the lacunae, we selected 48 mtDNAs from >2,000 samples across China for completesequencing that cover virtually all (sub)haplogroups discernible to date in East Asia. This East Asian mtDNA phylogeny can henceforth serve as a solid basis for phylogeographic analyses of mtDNAs, as well as for studies of mitochondrial diseases in East and Southeast Asia. [ABSTRACT FROM AUTHOR]
- Published
- 2003
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6. Phylogeographic Differentiation of Mitochondrial DNA in Han Chinese.
- Author
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Yong-Gang Yao, Qing-Peng Kong, Bandelt, Hans-J uuml rgen, Kivisild, Toomas, and Ya-Ping Zhang
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MITOCHONDRIAL DNA , *PHYLOGEOGRAPHY , *CHINESE people , *GENETIC mutation , *PHYSIOLOGY - Abstract
To characterize the mitochondrial DNA (mtDNA) variation in Han Chinese from several provinces of China, we have sequenced the two hypervariable segments of the control region and the segment spanning nucleotide positions 10171-10659 of the coding region, and we have identified a number of specific coding-region mutations by direct sequencing or restriction-fragment-length-polymorphism tests. This allows us to define new haplogroups (clades of the mtDNA phylogeny) and to dissect the Han mtDNA pool on a phylogenetic basis, which is a prerequisite for any fine-grained phylogeographic analysis, the interpretation of ancient mtDNA, or future complete mtDNA sequencing efforts. Some of the haplogroups under study differ considerably in frequencies across different provinces. The southernmost provinces show more pronounced contrasts in their regional Han mtDNA pools than the central and northern provinces. These and other features of the geographical distribution of the mtDNA haplogroups observed in the Han Chinese make an initial Paleolithic colonization from south to north plausible but would suggest subsequent migration events in China that mainly proceeded from north to south and east to west. Lumping together all regional Han mtDNA pools into one fictive general mtDNA pool or choosing one or two regional Han populations to represent all Han Chinese is inappropriate for prehistoric considerations as well as for forensic purposes or medical disease studies. [ABSTRACT FROM AUTHOR]
- Published
- 2002
- Full Text
- View/download PDF
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