Genetic Loci ; Humans ; Obesity ; genetics

Autism spectrum disorder (ASD) is one of the most complex behavioral disorders with a strong genetic influence. The objectives of this article are to review the current status of genetic research in ASD, and to provide information regarding the potential candidate genes, mutations, and genetic loci possibly related to pathogenesis in ASD. Investigations on monogenic causes of ASD, candidate genes among common variants, rare de novo mutations, and copy number variations are reviewed. The current possible clinical applications of the genetic knowledge and their future possibilities are highlighted.
Autistic Disorder* ; Child ; Autism Spectrum Disorder* ; Genetic Loci ; Genetic Research ; Genetics*

Quantitative trait loci (QTL) and their additive, dominance and epistatic effects play a critical role in complex trait variation. It is often infeasible to detect multiple interacting QTL due to main effects often being confounded by interaction effects. Positioning interacting QTL within a small region is even more difficult. We present a variance component approach nested in an empirical Bayesian method, which simultaneously takes into account additive, dominance and epistatic effects due to multiple interacting QTL. The covariance structure used in the variance component approach is based on combined linkage disequilibrium and linkage (LDL) information. In a simulation study where there are complex epistatic interactions between QTL, it is possible to simultaneously fine map interacting QTL using the proposed approach. The present method combined with LDL information can efficiently detect QTL and their dominance and epistatic effects, making it possible to simultaneously fine map main and epistatic QTL.
Chromosome Mapping ; Epistasis, Genetic ; Genetic Linkage ; Humans ; Linkage Disequilibrium ; Monte Carlo Method ; Quantitative Trait Loci ; genetics

OBJECTIVE: To investigate the statistical method of tri-allelic patterns of STR loci. METHODS: The DNAs of venous blood and blood stain samples from 8,846 unrelated individuals were extracted using magnetic bead method, and STR genotypes were determined by multiplex fluorescent amplification and capillary electrophoresis and analyzed using GeneMapper ID v3.2 software. The genotype frequency and allele frequency of trizonal were determined by direct counting and formula, respectively, in order to deduce the formula of trizonal in paternity test and individual recognition. RESULTS: Of the 8,846 individuals, four tri-alleles and three tri-genotypes were detected. The multiplying of allele frequency and actual rate showed significantly statistical difference. The formula of trizonal in paternity test and individual recognition was successfully deduced. CONCLUSION The frequency of the two alleles inherited as a whole in the population could be calculated by multiplying the frequencies of each allele in the tri-allelic patterns.
Alleles ; Gene Frequency ; Genetic Loci ; Genetics, Population ; Genotype ; Humans ; Microsatellite Repeats ; Polymorphism, Genetic

OBJECTIVETo obtain the population genetic data of 17 Y-chromosomal short tandem repeat (Y-STR) in the Han population in Chengdu of Sichuan Province.

METHODSThe 17 Y-STR loci were amplified from the blood samples of 111 unrelated Chengdu Han individuals using the AmpFlSTR Yfiler system. The PCR products were genotyped with an ABI 3130 genetic analyzer.

RESULTSIn the loci of in DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635, DYS392, Y-GATA-H4, DYS437, DYS438, and DYS448, 3 to 8 alleles were detected in the Han population in Chengdu, and 36 alleles were detected in the locus DYS385a/b, with the minimal gene diversity (GD) value of 0.3970 (DYS391) and maximal value of 0.9561 (DYS385a/b). The DNA samples of 16 women and 7 different species of animals were amplified, but no specific products were found for the 17 Y-STR loci. No mutations of the 17 Y-STR alleles were observed in 20 father-son pairs as confirmed by autosomal STR analysis.

CONCLUSIONThe 17 Y-STR loci are highly polymorphic and are suitable for personal identification, paternity testing, population genetics and anthropology studies.

China ; ethnology ; Chromosomes, Human, Y ; genetics ; Genetic Loci ; genetics ; Humans ; Male ; Microsatellite Repeats ; genetics ; Polymorphism, Genetic ; genetics

OBJECTIVE: To investigate 19 short tandem repeat (STR) loci in Chinese Kazakh population in Barkol County with Goldeneye™20A multiplex amplification system. METHODS: DNA samples were screened from 81 unrelated individuals. The 19 loci were D8S1179, D21S11, CSF1PO, D3S1358, D7S820, TH01, D13S317, D2S1338, D18S51, D16S539, TPOX, vWA, D19S433, D5S818, PentaD, PentaE, D6S1043, D12S391 and FGA. The PCR products were analyzed and genotyped by ABI3130XL sequencer. RESULTS: These loci were highly polymorphic. The combined power of discrimination was 0.999999999 and the combined paternity of exclusion was 0.999998914. CONCLUSION Goldeneye™20A multiplex amplification system is very useful in forensic case investigation for Barkol Kazakh population.
Asian Continental Ancestry Group ; genetics ; China ; Forensic Genetics ; Gene Frequency ; Genetic Loci ; Genetics, Population ; Humans ; Microsatellite Repeats ; genetics ; Polymorphism, Genetic

OBJECTIVES: To analyse the genetic polymorphisms of 19 autosomal STR loci in Han population of east, middle-northwest and southwest-south Shandong and to explore its genetic relationships among the population of these three regions. METHODS: STR loci of 1 044 unrelated Han individuals in three Shandong regions were typed with a Goldeneye® DNA ID System 20A kit. The allele frequency and population genetics parameters of 19 autosomal STR loci were statistically analysed by Modified-Powerstates software. The genetic distances among the population in three regions were calculated by Arlequin v3.5 software. The phylogenetic tree was conducted using MEGA v4.0 software. RESULTS: Fifteen of 19 autosomal STR loci were detected with the H values greater than 0.7, PIC values greater than 0.7, and DP values greater than 0.9 in the populations of all three Shandong regions. Among the populations in these three regions, the genetic distance between the populations in middle-northwest and southwest-south Shandong was closest （F_st=0.000 16）, followed by east and southwest-south Shandong （F_st=0.0003 6）. The genetic distance between the populations in east and middle-northwest Shandong was the farthest （F_st=0.000 66, P<0.05）. CONCLUSIONS The 19 autosomal STR loci show good genetic polymorphisms in Han population of three Shandong regions, and 15 of them are high. There are genetic differences between the populations in east and middle-northwest Shandong.
Asian People/genetics* ; China ; Ethnicity ; Gene Frequency ; Genetic Loci/genetics* ; Genetics, Population ; Humans ; Microsatellite Repeats ; Phylogeny ; Polymorphism, Genetic/genetics*

OBJECTIVETo investigate the relationship of susceptibility loci in chromosomes 1q21-25 and 6p21-25 and schizophrenia subtypes in Chinese population.

METHODSA genomic scan and parametric and non-parametric analyses were performed on 242 individuals from 36 schizophrenia pedigrees, including 19 paranoid schizophrenia and 17 undifferentiated schizophrenia pedigrees, from Henan province of China using 5 microsatellite markers in the chromosome region 1q21-25 and 8 microsatellite markers in the chromosome region 6p21-25, which were the candidates of previous studies. All affected subjects were diagnosed and typed according to the criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revised (DSM-IV-TR; American Psychiatric Association, 2000). All subjects signed informed consent.

RESULTSIn chromosome 1, parametric analysis under the dominant inheritance mode of all 36 pedigrees showed that the maximum multi-point heterogeneity Log of odds score method (HLOD) score was 1.33 (α = 0.38). The non-parametric analysis and the single point and multi-point nonparametric linkage (NPL) scores suggested linkage at D1S484, D1S2878, and D1S196. In the 19 paranoid schizophrenias pedigrees, linkage was not observed for any of the 5 markers. In the 17 undifferentiated schizophrenia pedigrees, the multi-point NPL score was 1.60 (P= 0.0367) at D1S484. The single point NPL score was 1.95(P= 0.0145) and the multi-point NPL score was 2.39 (P= 0.0041) at D1S2878. Additionally, the multi-point NPL score was 1.74 (P= 0.0255) at D1S196. These same three loci showed suggestive linkage during the integrative analysis of all 36 pedigrees. In chromosome 6, parametric linkage analysis under the dominant and recessive inheritance and the non-parametric linkage analysis of all 36 pedigrees and the 17 undifferentiated schizophrenia pedigrees, linkage was not observed for any of the 8 markers. In the 19 paranoid schizophrenias pedigrees, parametric analysis showed that under recessive inheritance mode the maximum single-point HLOD score was 1.26 (α = 0.40) and the multi-point HLOD was 1.12 (α = 0.38) at D6S289 in the chromosome 6p23. In nonparametric analysis, the single-point NPL score was 1.52 (P= 0.0402) and the multi-point NPL score was 1.92 (P= 0.0206) at D6S289.

CONCLUSIONSusceptibility genes correlated with undifferentiated schizophrenia pedigrees from D1S484, D1S2878, D1S196 loci, and those correlated with paranoid schizophrenia pedigrees from D6S289 locus are likely present in chromosome regions 1q23.3 and 1q24.2, and chromosome region 6p23, respectively.

Adult ; Chromosomes, Human ; Genetic Linkage ; Genetic Loci ; Genetic Predisposition to Disease ; Humans ; Microsatellite Repeats ; genetics ; Middle Aged ; Schizophrenia ; genetics ; Young Adult

Microdeletion of the azoospermia factor in the Yq of the Y chromosome is one of the important causes of male infertility. Complete deletion of the AZFc region (b2/b4 deletion) is the most common type of AZF deletion. Recent studies have shown a variety of deletions of the AZFc region, including partial deletions, such as gr/gr deletion, b1/b3 deletion and b2/b3 deletion, which may also be associated with male infertility.
Chromosome Deletion ; Chromosomes, Human, Y ; Genetic Loci ; Humans ; Infertility, Male ; genetics ; Male ; Seminal Plasma Proteins ; genetics

The aim of this study was to investigate the genetic polymorphism of Y-chromosome specific short tandem repeat (Y-STR) loci in Zhuang ethnic group of China. Nine Y-STR loci were amplified by single multiplex and the PCR products were detected by using ABI Prism(TM) 3100 DNA Sequencer. The allele frequencies and haplotype frequencies at 9 Y-STR loci were determined in a total of 85 unrelated male individuals from Zhuang ethnic group of China. The results indicated that in the 85 unrelated male individuals, except for the DYS426 locus with a low GD value, the GD values for other 8 Y-STR loci ranged from 0.4387 to 0.8129. A total of 70 haplotypes at 9 Y-STR loci were found, the haplotype diversity was 0.9926. It is concluded that the haplotype polymorphism of 9 Y-STR loci are highly polymorphic in Zhuang ethnic group and also significantly different from our previous reported data of unrelated male individnals in southern Chinese Han population.
Alleles ; China ; ethnology ; Chromosomes, Human, Y ; genetics ; Genetic Loci ; genetics ; Humans ; Male ; Microsatellite Repeats ; genetics ; Polymorphism, Genetic