1.Mitochondrial DNA haplotype and mutations related with aminoglycoside-induced deafness.
Qi LI ; Pu DAI ; De-Liang HUANG
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2008;43(6):474-476
DNA, Mitochondrial
;
genetics
;
Deafness
;
chemically induced
;
genetics
;
Haplotypes
;
Humans
;
Mutation
2.Population genetic study of Magnolia officinalis and Magnolia officinalis var. biloba.
Shengxian YU ; Qingjun YUAN ; Bin YANG ; Chunxia ZHANG ; Chengyu CHEN
China Journal of Chinese Materia Medica 2010;35(16):2129-2132
OBJECTIVEpopulation genetic study of Magnolia officinalis and M. officinalis var. biloba was performed in this paper. The objectives of this study are to provide baseline data of molecular pharmaceutics for quality control of Cortex Magnoliae Officinalis.
METHODA total of 15 populations of M. officinalis and M. officinalis var. biloba were collected. PCR amplification and sequencing were performed with two chloroplast intergenic spacers psbA-trnH and trnL-trnF. Chloroplast haplotype frequencies were calculated, genetic diversity and genetic structure were estimated by using the program HAPLONST, and a haplotype network depicting the mutational relationships among distinct haplotypes was drawn following the principle of parsimony by TCS version 1.13.
RESULTThe differentiation of haplotype frequencies between M. officinalis and M. officiunalis var. biloba was significant although there was no private haplotypes of themselves.
CONCLUSIONThere was certain genetic divergence between M. officinalis and M. offcinalis var. biloba although the monophyletic clade of themselves was not still formed.
Evolution, Molecular ; Genetics, Population ; Haplotypes ; Magnolia ; classification ; genetics
5.Estimation of haplotypes based on DNA pooling.
Liu HE ; Xun TANG ; Yonghua HU
Journal of Central South University(Medical Sciences) 2011;36(5):457-460
DNA pooling, a fast and economic study strategy, is widely used in areas of scientific research. In spite of various limits, researchers are making their efforts to improve DNA pooling toward a more perfect direction, including allele frequency detection and estimation of haplotypes. In haplotype estimation, more and more analyzing Methods originated from the expectation-maximization algorithm have appeared, with improved accuracy and practicality, such as HaploPool algorithm and PoooL algorithm.
Algorithms
;
DNA
;
genetics
;
Gene Frequency
;
genetics
;
Gene Pool
;
Genetic Variation
;
genetics
;
Genotyping Techniques
;
Haplotypes
;
genetics
;
Humans
6.Y chromosome variations and male infertility.
Chinese Journal of Medical Genetics 2010;27(3):276-281
Male infertility is a common complex disease. Y-linked spermatogenic failure is an important cause for this disorder. Due to the presence of many repeat sequences and the frequent occurrence of non-allelic homologous recombination between the sequences in the male-specific region of the Y (MSY) region of the chromosome, Y chromosome possesses high variation rate. The variations may result in the dosage changes of spermatogenesis-related gene families and lead to male infertility. The present article reviews the recent progress of the study on Y chromosome variations, and its possible effect on spermatogenic function, in DNA level.
Chromosomes, Human, Y
;
genetics
;
Haplotypes
;
genetics
;
Humans
;
Infertility, Male
;
genetics
;
Male
;
Mutation
;
Spermatogenesis
;
genetics
7.The relationship between haplotypes of multilocus markers and ankylosing spondylitis.
Ming-min GU ; Wen-tao YUAN ; Jue-qin YANG ; Jing ZHANG ; Xiao-yan XIONG ; Fang-juan YAO ; Zhen-yu LU ; Zhu-gang WANG ; Wei HUANG ; Li-an FAN
Chinese Journal of Medical Genetics 2004;21(4):312-315
OBJECTIVETo investigate the relationship between haplotypes of multilocus markers and ankylosing spondylitis (AS).
METHODSFive families with AS were recruited from Shanghai area. Eleven microsatellite markers around D6S276 were analyzed by Linkage package and by Cyrillic package.
RESULTSFine linkage analysis showed the significant Lod score values with D6S276 was 3.8821, Lod score values with D6S1691 and D6S1618 near D6S276 were larger than 1.5. The crossover value in 5 pedigrees was 14%. The haplotype analysis showed that the regions between D6S1691 and D6S1618 were associated with AS.
CONCLUSIONThe regions of D6S1691-D6S276-D6S1618 may harbor a susceptible gene of AS. The specific haplotypes of different pedigrees may play an important role in the presymptomatic diagnosis for AS.
Female ; Haplotypes ; genetics ; Humans ; Linkage Disequilibrium ; genetics ; Male ; Pedigree ; Spondylitis, Ankylosing ; genetics
8.Application of Familial Y-STR Haplotype Mismatch Tolerance in Genealogy Inference.
Meng-Jie TONG ; Ke ZHANG ; Cai-Xia LI ; Guang-Feng ZHANG ; Wen-Jie ZHANG ; Lan YANG ; Qing-Tang HOU ; Jing LIU
Journal of Forensic Medicine 2023;39(3):296-304
OBJECTIVES:
To provide a guideline for genealogy inference and family lineage investigation through a study of the mismatch tolerance distribution of Y-STR loci in Chinese Han male lineage.
METHODS:
Three Han lineages with clear genetic relationships were selected. YFiler Platinum PCR amplification Kit was used to obtain the typing data of 35 Y-STR loci in male samples. The variation of Y-STR haplotypes in generation inheritance and the mismatch tolerance at 1-7 kinship levels were statistically analyzed.
RESULTS:
Mutations in Y-STR were family-specific with different mutation loci and numbers of mutation in different lineages. Among all the mutations, 66.03% were observed on rapidly and fast mutating loci. At 1-7 kinship levels, the number of mismatch tolerance ranged from 0 to 5 on all 35 Y-STR loci, with a maximum step size of 6. On medium and slow mutant loci, the number of mismatch tolerance ranged from 0 to 2, with a maximum step size of 3; on rapidly and fast mutant loci, the number of mismatch tolerance ranged from 0 to 3, with a maximum step size of 6.
CONCLUSIONS
Combined use of SNP genealogy inference and Y-STR lineage investigation, both 0 and multiple mismatch tolerance need to be considered. Family lineage with 0-3 mismatch tolerance on all 35 Y-STR loci and 0-1 mismatch tolerance on medium and slow loci can be prioritized for screening. When the number of mismatch tolerance is eligible, family lineages with long steps should be carefully excluded. Meanwhile, adding fast mutant loci should also be handled with caution.
Male
;
Humans
;
Haplotypes
;
Chromosomes, Human, Y/genetics*
;
Microsatellite Repeats
;
Mutation
;
Asian People/genetics*
;
China
;
Genetics, Population
9.Analysis of Y-chromosomal biallelic polymorphisms in Sichuan Han of Chinese population.
Xiao-hong SONG ; Hai-jun ZHANG ; Li-bing YUN ; Shuang GAO ; Yu WANG ; Jin WU ; Jing YAN ; Ying-bi LI ; Yi-ping HOU
Chinese Journal of Medical Genetics 2008;25(3):352-355
OBJECTIVETo evaluate the forensic utility of Y-single nucleotide polymorphisms (SNPs) markers.
METHODSAllele-specific PCR, restriction enzyme digestion or direct PCR were performed to examine 10 different SNP loci on Y chromosome, namely M9, M15, M45, M89, M95, M122, M134, M145, M173 and P25 in 161 Chinese Han males.
RESULTSA total of 8 of the 10 SNPs are reported to be polymorphic in Chinese. The gene diversity for the loci showing polymorphism ranged from 0.988/0.012-0.752/0.248, with a power of discrimination 0.094-0.373. Loci M122 and M134 were the most polymorphic markers in Chinese Hans. Nine different haplogroups with frequencies from 1.2% to 51.6% were observed and 3 of the haplogroups-K*(x O2a, O3, P), O3*(x O3e) and O3e were found in 75.2% of Chinese Hans.
CONCLUSIONA comprehensive gene diversity data of Y chromosome and haplogroups were obtained in Sichuan Han population, which will be served as the base for using these Y-SNP markers in forensic medicine and individual identification in Sichuan Hans.
China ; Chromosomes, Human, Y ; genetics ; Female ; Haplotypes ; genetics ; Humans ; Male ; Polymerase Chain Reaction ; Polymorphism, Genetic ; genetics
10.Construction of medicinal plant core collection based on molecular phylogeography.
Xiaoguang LIU ; Luqi HUANG ; Qingjun YUAN ; Yongqing ZHANG ; Bin ZHANG ; Lanping GUO ; Aijuan SHAO ; Xiaoguang GE
China Journal of Chinese Materia Medica 2012;37(5):692-698
The paper introduces the current situation and the characteristics of the medicinal plant core collection. It expounds the significance and research methods for the medicinal plant core collection based on molecular phylogeography. Guided by molecular phylogeography, the essay explores the feasibility and methods of medicinal plant core collection for the medicinal plants with rich wild resources and without wild resources. It further forecasts the application of medicinal plant core collection methods on the basis of molecular phylogegraphy.
Chloroplasts
;
genetics
;
Drugs, Chinese Herbal
;
Haplotypes
;
Phylogeography
;
Plants, Medicinal
;
genetics
;
Scutellaria baicalensis
;
genetics