Southwest China Han Population data for nine Y-STR loci by multiplex polymerase chain reaction.
Explore the source record for details and available documents.
Biomedical subjects
Publications and source records attributed to Yiping Hou.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Allele frequencies for 15 STR loci found in PowerPlex 16 System kit were determined in a sample of 200 unrelated individuals living in Sichuan area in west China. The values of observed heterozygosity (Ho), power of discrimination (PD), probability of paternity exclusion (PE) and polymorphism information content (PIC) were calculated. All loci were in accordance with Hardy-Weinberg equilibrium (p<0.05). The obtained frequency distributions were compared with other previously reported population data.
Molecular technique with STRs can rapidly diagnose aneuploidy. In order to improve its fidelity, we developed a novel STR-based strategy for fast diagnosis of trisomy 21 and constructed a multimarker diagnostic system according to it. The system is based on nine STRs, of which two were previously known and seven were newly identified from the genomic sequence of the long arm of chromosome 21. They were confirmed to be highly polymorphic in the Chinese population by PCR amplification and gel electrophoresis. The combination of nine STR markers, when applied to DNA from 102 Chinese individuals with normal karyotype, did not yield any false-positives, and clearly revealed three different alleles in DNA from 15 out of 18 trisomy 21 patients. The results show that our new strategy can provide an alternative molecular technique for the rapid detection of aneuploidy.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
BACKGROUND: The cholesteryl ester transfer protein (CETP) is a key participant in the reverse transport of cholesterol from the peripheral tissue to the liver and the polymorphism in the CETP gene may therefore alter the susceptibility to coronary heart disease (CHD). The aim of the present study was to screen the CETP gene for new single nucleotide polymorphisms (SNPs) and to determine whether SNPs at important cholesterol metabolism gene loci might exert effects on the risk to CHD in Chinese. METHODS: Genomic DNA samples were collected from 203 Chinese patients with CHD and 209 age- and gender-matched controls. The coding region, adjacent intronic sequences and promoter region (totally 5501 bp) of the CETP gene were screened based on a combination of polymerase chain reaction, denaturing high performance liquid chromatography and DNA sequencing. The association of individual single nucleotide polymorphisms with CHD was assessed by univariate, multivariate analysis and haplotype analysis. RESULTS: Fifteen SNPs were identified in the CETP gene including 12 novel ones, of which, 3 were in promoter region, 1 in exon 10, and other 9 in introns. The frequencies of -644C, +13054T, 296Q, and 442G alleles were considerably higher, while the frequency of +9907A allele lower, in CHD patients than those in controls (p=0.016, p=0.043, p=0.006, p=0.006, and p=0.029, respectively). The results of individual polymorphism analyses were confirmed by haplotype analysis for the combination of these 5 SNPs. The -644A/C, L296Q, and D442G polymorphisms were found to be associated with CHD in this Chinese population by multivariate analysis (p=0.009, p=0.024, and p=0.007, respectively). The adjusted odds ratio for the development of CHD for the -644C allele carriers was 1.63 compared with -644AA genotype (95% CI 1.05-2.78; p<0.01), 1.71 for the 296Q allele carriers relative to 296LL genotype (95% CI 1.10-2.89; p<0.05), and 1.31 for the 442G allele carriers relative to 442DD genotype (95% CI 1.02-2.56; p<0.01), respectively. CONCLUSIONS: There is a significant relation between the polymorphisms in the CETP gene and the development of CHD, and individuals homozygous or heterozygous for the -644C, 296Q, and 442G alleles of the CETP gene are at increased risk to develop CHD in this Chinese population.
OBJECTIVE: To acquire the population genetic data of fifteen short tandem repeat (STR) loci in Chengdu Han population. METHODS: A total of 210 EDTA-blood specimens were collected from the unrelated individuals in Chengdu Han population. The DNA samples were extracted with Chelex method and amplified by multiplex PCR technique. The PCR products were analyzed by an automatic genetic analyzer; the relative fragment's lengths of PCR products were calculated by gene scan analysis software and afterward genotyped by genotype software. RESULTS: Fifteen STR loci of the 210 samples showed a successful result of genotyping. The heterozygosities of the fifteen STR loci in Chengdu Han population were found to be 0.529-0.881; the combined exclusion probability and discrimination power for the fifteen STR loci in Chengdu Han population were determined to be 0.999998 and 7.3 x 10 (-17); respectively. CONCLUSION: The distinct genotype of fifteen STR loci and the sex of sample could be unveiled just through PCR and electrophoresis once, and a higher measured value could be obtained for both the combined discrimination power and the exclusion probability; the fifteen STR loci can meet the needs of the parentage testing and personal identification in forensic medicine.
With the development of genomics and the accomplishments of human genomic sequencing, polymorphic markers and their analytic approaches are more and more important, and much attention has been paid to the fact that the analysis of single nucleotide polymorphisms utilizing matrix-assisted laser desorption/ionization time-of-flight mass spectrometry(MALDI-TOF MS) is a high-throughput approach. MALDI-TOF MS can also mini-sequence and genotype short tandem repeat. The approaches to analyzing single nucleotide polymorphisms are primer oligonucleotide base extension, ligase reaction, peptide nucleotide acid, invader assay, and so on.
To understanding the allele structure and genetic polymorphisms at five STR loci in Chinese Han population, and construct a preliminary database, EDTA-blood specimens were collected from unrelated individuals. DNA samples were extracted with Chelex method and were amplified by PCR technique. The PCR products were analyzed using both PAGE horizontal electrophoresis with discontinuous buffer system and automated fluorescence detection approach. As a result, three STRs consist of simple repeat motifs, while two STR contain a complex repeat structure. The STR polymorphisms at all of the five loci have been observed in Chinese Han population. In a word, the obtained data are beneficial to understanding the population genetics of the five STR loci in Chinese Han population. As a simple approach, the PAGE horizontal electrophoresis can be employed for typing the five STR markers.
Explore the source record for details and available documents.
Coronary atherosclerotic heart disease (CAD) is a multifactorial disorder resulting from numerous gene-gene and gene-environment interactions. Lecithin:cholesterol acyltransferase (LCAT), a key enzyme in reverse cholesterol transport and the metabolism of high-density lipoprotein (HDL), is thought to be a candidate gene related to dyslipidemia and CAD. Variations in the LCAT gene were investigated in 190 CAD patients and 209 age- and gender-matched controls by denaturing high-performance liquid chromatography, and confirmed by sequencing and RFLP assay. In CAD patients, a novel single-nucleotide polymorphism (P143L) in exon 4 of the LCAT gene was discovered in nine males and two females (frequency of 5.79%), which was found in none of 209 controls. The genotype and allele distribution of P143L is significantly (P<0.04 ) higher in the low HDL-C subgroup than in the normal HDL-C subgroup in both male patients and all CAD patients. P143L was also found to be significantly (P<0.01) associated with the low HDL-C phenotype in both male patients and all CAD patients, with odds-ratios of 7.003 (95% CI 2.243-21.859) and 5.754 (95% CI 1.893-13.785), respectively. Thus, the P143L polymorphism may play a role in causing decreased HDL-C levels, leading to increased risk of dyslipidemia and CAD in Chinese.
OBJECTIVE: The morphological changes and the expression of substance P of BTX-A effected on the submandibular gland of the rat were investigated in the study. METHOD: A total of 18 female Wistar rats were used. BTX-A was injected at right side submandibular gland. All the animals were sacrificed at the 6th day, 10th day and 30th day after treatment. Using morphological and SABC immunohistochemical methods to observe the changes of cell morphology and the expression of substance P after local applications of BTX-A at different times. The left gland was injected with physiological saline as control. RESULT: The morphology of acinar cells and ducts were different after BTX-A injection at observed time points. At the 6th day after BTX-A injection, acinar cells began to atrophy. Especially to the 10th day after treatment, lots of acinar cells and gland ducts showed atrophy. At the 30th day, few atrophic acinar cell was observed which was as same as control side. There were no cellular infiltration and necrosis around the acinar cells and ducts in all groups. Immunohistochemical study revealed that the density of substance P immunoreactive (SP-IR) fibers lowered at the 6th day after BTX-A injection. A marked decrease of SP-IR fibers was shown at the 10th day after BTX-A application. There was significant difference vs control side (P<0.01). However, the expression of SP-IR increased at the 30th day, which was similar to control side. CONCLUSION: It has been shown that BTX-A induced temporarily atrophy of acinar cells and ducts in rats submandibular gland and reduced the expression of substance P temporarily. The results suggested that local BTX-A treatment was a selective method to treat the hypersalivation.
For several years Y-chromosomal microsatellites (short tandem repeats, STRs) have been well established in forensic practice. In this context, the genetic characteristics of the Y chromosome (i.e. its paternal inheritance and lack of recombination) render STRs particularly powerful. However, genetic differences between male populations appear to be larger for Y-STRs than for autosomal STRs, a fact that is most likely due to the higher sensitivity of Y-chromosomal lineages to genetic drift (Forensic Sci Int 118 (2001) 153). The assessment of probabilities for matches between haplotyped male persons or traces/persons requires the typing of a large number of haplotypes in the appropriate reference populations. The haplotype data of a large number of European as well as South and North American populations have been collected and are continuously published online (Y-STR Haplotype Reference Database--YHRD; http://www.ystr.org). The most recent multicentric effort has led to the establishment of an Asian YHRD (http://www.ystr.org/asia) which has been available since January 2002. All databases are maintained and curated at the Institute of Legal Medicine, Humboldt-University, Berlin and will soon be fused to a global repository including populations from all continents.
Hepatic lipase (HL) is a lipolytic enzyme involved in the metabolism of plasma lipoproteins, especially HDLs. Association of the polymorphisms in the promoter region of the LIPC gene to post-heparin plasma HL activity and the plasma HDL-C concentration has been investigated thoroughly, but to date little is known about this in the Chinese. In the present study, we analyzed the polymorphisms in the promoter region of LIPC gene in Chinese patients with coronary artery disease (CAD) using denaturing high performance liquid chromatography (DHPLC) and DNA sequencing. As the result, a novel single nucleotide polymorphism -586T-to-C was identified and no linkage of this variant with other polymorphisms in the promoter was found. Compared with the nonsymptomatic control subjects, excess of carriers of the -586T/C substitution were detected in the CAD patients (43% vs. 31%, chi(2) = 4.597, degree of freedom = 2, P = 0.032). The -586C allele carriers in the CAD patients had a significantly higher HDL-C level than the noncarriers (1.13 +/- 0.24 mmol/l vs. 0.91 +/- 0.14 mmol/l, P < 0.05). To test the functionality of this substitution, luciferase-reporter assays was performed in HepG2 cells. Promoter activity of the -586C construct was decreased 2-fold than the -586T construct. Our studies suggest that a T-to-C substitution at -586 of the LIPC promoter is associated with a lowered HL activity and that this variation may contribute to the increased plasma HDL-C concentration in the Chinese.
HFE gene is a major histocompatibility complex class I-like gene, which was identified as a candidate gene for hemochromatosis in 1996. The proposed role for HFE is its part in the regulation of the interaction of the transferrin receptor with transferrin. Hemochromatosis, the common autosomal recessive disease of iron overload, affects at least 1 in 300 Caucasians. The identification of the C282Y mutation in the HFE gene has led to population screening studies. Much of this work has also included the analysis of a second mutation, H63D, which appears to have a low penetrability. HFE protein was recently found to coprecipitate with the transferrin receptor and to affect the reaction between transferrin and the transferrin receptor. Functional data suggest that the mutation C282Y abolishes the association of the HFE protein with beta 2-microglobulin (beta 2M), making the complex unable to reach the cell surface. Clearly, if the mutation protein is unable to reach the cell surface, this regulatory feature is missing. The role of a second mutation in the HFE gene, H63D, is less clear. Current data suggest that this mutation protein can associate with beta 2-microglobulin and does reach the cell surface and that the defect lies in a failure to modify the affinity of the transferrin receptor for transferrin. This does not explain the low degree of penetrability associated with this mutation.
OBJECTIVE: To construct a genetic map based on data from the Chinese population in northern part of China and to compare relationship between physical distance and genetic distance on chromosome 22. METHODS: PCR amplification was employed to genotype 6 STR loci on chromosome 22, and pedigree analysis was performed. RESULTS: A genetic map of Chinese Han population in the northern part of China was constructed and a preliminary comparison of the physical and genetic distances between 6 STR loci on chromosome 22 was made. CONCLUSION: There is complex relationship between genetic distance and physical distance: the distance between STR loci is related to physical distance but also recombination fraction, and there are differences of the genetic and physical distances on chromosome 22 between Chinese and Caucasian, and between the male and female.