RESUMEN
Objective To investigate the influence of the genotype distribution of methylenetetrahydrofolate reductase (MTHFR) C677T,A1298C and methionine synthase reductase (MTRR) A66G in threatened abortion of Chinese Han gestationalage women in Sanya city,which involved in the folic acid biosynthetic pathway among.Methods One hundred and thirty-nine samples of case group and the same number of control group were recruited from Sanya region in Hainan Province.Genomic DNA was extracted from the mucosal epithelium of the subjects.The gene polyrnorphisms of MTHFR and MTRR were detected by Fluorescence quantitative PCR technology.The distribution frequencies of both case group and control group.were analyzed and compared,to investigate the effect of the gene polymorphisms on threatened abortion.Results Both the case group and the control group complied with Hardy-Weinberg law.The genotype frequency of MTHFR C677T,MTHFR A1298C and MTRR A66G were not significantly different.Conclusion This study suggests that the gene polymorphism which involved in folic metabolism was not significantly different from the group of threatened abortion and the control group,and whether the metabolism related genes are the risk factors of threatened abortion need to be further discussed.
RESUMEN
Objective To construct a database for the genetic polymorphism of 19 STR loci in Han population from Hainan province. To investigate the application of 19 STR loci in the paternity testing. Methods The genotypes of 462 unrelated individuals in Hainan were detected with GoldeneyeTM 20A PCR Amplification Kit. 19-STR database was acquired, analyzed and evaluated in 283 paternity testing cases. Results No deviations of allele frequency from Hardy-Weinberg equilibrium expectations were found for Chi-square test (P>0.05). Observed heterozygosity (Hobs) varied between 0.603 and 0.914, total discrimination power (TDP) of 19 STR loci was more than 0.999999999999999, cumulative probability of exclusion (CPE) for triplet cases was 0.999999994. In all 283 paternity testing cases, triplets and duos were 170 and 113 respectively; there were 36 (12.7%) excluded cases comparing to 247 confirmed cases (87.3%). 14 mutation events were observed, and all were one-step mutation. Conclusion 14 out of 19 loci showed highly polymorphic in Han population from Hainan, and 19 STR system has high cumulative probability of exclusion and can meet the needs of paternity test of the local region. But mutation should be paid special attention to.