ABSTRACT
<p><b>OBJECTIVE</b>To explore the influence of the DNA repair gene ERCC2 single nucleotide polymorphisms (SNPs) rs13181, rs1618536, and rs1799793 on male idiopathic infertility in Ningxia, China.</p><p><b>METHODS</b>Using MassArray, we conducted a case-control study and genotyped three ERCC2 SNPs rs13181, rs1618536, and rs1799793 for 351 males (aged 31.0 +/- 4.2 years) with idiopathic infertility and another 327 normal fertile men (aged 33.0 +/- 5.9 years) as controls.</p><p><b>RESULTS</b>The ERCC2 AnyG-anyA-anyA genotypes were significantly associated with an increased risk of idiopathic infertility (OR 0.414, 95% CI 0.176 - 0.970), while the three single ERCC2 SNPs rs13181, rs1618536, and rs1799793 showed no significant differences between the cases and controls (P > 0.05).</p><p><b>CONCLUSION</b>The ERCC2 SNPs rs13181, rs1618536, and rs1799793 play a role of interaction in male idiopathic infertility in Ningxia, contributing to the risk of the disease.</p>
Subject(s)
Adult , Humans , Male , Case-Control Studies , China , DNA Repair , Genotype , Infertility, Male , Genetics , Polymorphism, Single Nucleotide , Xeroderma Pigmentosum Group D Protein , GeneticsABSTRACT
PURPOSE: Genetic variation in fibroblast growth factor receptor 2 (FGFR2) is a newly described risk factor for breast cancer. This study aimed to evaluate the association of four single nucleotide polymorphisms (SNPs) in FGFR2 with breast cancer in Han Chinese women. METHODS: Two hundred three women with breast cancer and 200 breast cancer-free age-matched controls were selected. Four SNPs (rs2981579, rs1219648, rs2420946, and rs2981582) and their haplotypes were analyzed to test for their association with breast cancer susceptibility. The presence of the four FGFR2 SNPs was determined by polymerase chain reaction-restriction fragment length polymorphism analysis. RESULTS: A statistically significant difference was observed in the frequency of rs2981582 in the FGFR2 gene (p 3%) haplotypes were identified. Three of these haplotypes, CGTC (odds ratio [OR], 0.613; 95% confidence interval [CI], 0.457-0.82; p=0.001), TGTC (OR, 6.561; 95% CI, 2.064-20.854; p<0.001), and CATC (OR, 12.645; 95% CI, 1.742-91.799; p=0.001) were significantly associated with breast cancer risk. CONCLUSION: Our findings indicated that the SNP rs2981582 and haplotypes CGTC, TGTC, and CATC in FGFR2 may be associated with an increased risk of breast cancer in Han Chinese women.
Subject(s)
Female , Humans , Asian People , Breast , Breast Neoplasms , Case-Control Studies , Fibroblast Growth Factors , Fibroblasts , Genetic Variation , Haplotypes , Polymorphism, Single Nucleotide , Progesterone , Receptor, Fibroblast Growth Factor, Type 2 , Receptors, Fibroblast Growth Factor , Risk FactorsABSTRACT
<p><b>OBJECTIVE</b>To determine the mutation responsible for the congenital fibrosis of the extraocular muscles type I(CFEOM1) in a Chinese family.</p><p><b>METHODS</b>Direct sequencing of exons 20 and 21 in the KIF21A gene was performed for the proband. The mutation c.2860C to T in exon 21 was examined by allele specific-PCR (AS-PCR) analysis in other family members. Haplotype analysis was performed using four STR markers (D12S1668, D12S2194, D12S331 and D12S1048).</p><p><b>RESULTS</b>A heterozygous mutation c.2860C to T in the KIF21A gene was identified in all three affected members with CFEOM1. Haplotype analysis suggested that the mutation might derive from maternal germline mosaicism.</p><p><b>CONCLUSION</b>This Chinese family with CFEOM1 may be caused by a c.2860C to T mutation in the KIF21A gene.</p>
Subject(s)
Child , Female , Humans , Alleles , Asian People , Genetics , Base Sequence , China , Exons , Fibrosis , Haplotypes , Kinesins , Genetics , Mutation , Genetics , Oculomotor Muscles , Metabolism , Pathology , Pedigree , Phenotype , SyndromeABSTRACT
<p><b>OBJECTIVE</b>To obtain the genetic polymorphism of Y chromosomal short tandem repeat (Y-STR) loci in Ningxia Hui population.</p><p><b>METHODS</b>Blood samples were collected from 150 unrelated healthy male individuals of Ningxia Hui ethnic group. Twelve Y-STR loci were amplified in one tube by using the PowerPlex System STR Amplification Kit, and the genotypes were determined using Genescan and Genotype software of ABI377 DNA sequencer and the frequency of alleles and haplotypes of Ningxia Hui ethnic was obtained.</p><p><b>RESULTS</b>Seventy-five alleles were observed at 12 Y-STR loci. The frequency ranged from 0.0067-0.7067 and the gene diversity ranged from 0.4446-0.8877. Totally 148 different haplotypes were found, which were unique in 150 males. Two haplotypes were shared by 2 males respectively. The haplotype diversity was 0.9864.</p><p><b>CONCLUSION</b>The 12 Y-STR loci are highly polymorphic in Ningxia Hui population and are suitable for genetics and forensic research.</p>