RESUMEN
OBJECTIVE@#To explore the methods for identification of sibling brothers with Y-STR locus mutation by detection of genetic markers on autosome and Y-biallelic.@*METHODS@#Goldeneye 20A and 18NC kit were used to genotyped the 35 STRs on autosome from two men. PowerPlex Y kit and Yfiler kit were used to genotyped the 16 STRs on Y chromosome full sibling index was calculated by ITO method. Twenty Y-biallelic markers were genotyped by fragment length discrepant allele specific PCR or general PCR.@*RESULTS@#Relationship of sibling brothers was found to have mutation of 2 loci on 16 Y-STR and the identical genetype of 20 Y-biallelic markers as well as a cumulative full sibling index of 4.3149 x 10(6) from 35 STRs on autosome.@*CONCLUSION@#In identification of paternal linage of Y-STR mutation, more genetic information can be acquired by detection of Y-biallelic markers including SNP and InDel.
Asunto(s)
Humanos , Masculino , Alelos , Cromosomas Humanos Y/genética , Genética Forense/métodos , Frecuencia de los Genes , Sitios Genéticos/genética , Marcadores Genéticos , Genotipo , Repeticiones de Microsatélite/genética , Mutación , Reacción en Cadena de la Polimerasa/métodos , Polimorfismo Genético , HermanosRESUMEN
<p><b>OBJECTIVE</b>To investigate the relationship between C923T (Ala308Val) polymorphism in exon 10 of protein 47000 phagocyte oxidase(p47(phox)) gene and stroke and to evaluate the effect of C923T (Ala308Val) polymorphism on plasma lipid levels in Hunan Hans population.</p><p><b>METHODS</b>Hunan Han population C923T (Ala308Val) polymorphism in p47phox gene was determined by PCR-single strand conformation polymorphism analysis and DNA sequencing in 100 healthy controls, 220 patients with stroke, and 10 stroke pedigrees. Plasma lipid levels were measured by routine methods.</p><p><b>RESULTS</b>No statistically significant differences were found in frequencies of genotypes and alleles of C923T (Ala308Val) polymorphism between the controls and stroke patients (P > 0.05). The serum levels of triglyceride in cerebral infarction patients and controls with CT genotype were markedly higher than those with CC genotype (P < 0.05).</p><p><b>CONCLUSION</b>There is no association between C923T (Ala308Val) polymorphism and stroke in Hunan Hans; C923T (Ala308Val) polymorphism is associated with plasma lipid metabolism in Hunan Han population with cerebral infarction.</p>