ABSTRACT
Objective T o explore the genetic variation sites of caveolin (C A V ) and their correlation w ith sudden unexplained death (SU D ).Methods The blood sam ples w ere collected from SU D group (71 cases), coronary artery disease (C A D ) group (62 cases) and control group (60 cases), respectively. T he genom e D N A w ere extracted and sequencing w as perform ed directly by am plifying gene coding region and exon-intron splicing region of CAV1 and CAV3 using PC R . T he type of heritable variation of CVA w as con-firm ed and statistical analysis w as perform ed. Results A total of 4 variation sites that m aybe significa-tive w ere identified in SU D group, and tw o w ere new found w hich w ere CAV1: c.45C>T (T 15T ) and CAV1:c.512G>A (R 171H ), and tw o w ere SN P loci w hich w ere CAV1:c.246C>T (rs35242077) and CAV3:c.99C>T (rs1008642) and had significant difference (P<0.05) in allele and genotype frequencies betw een SU D and control groups. Forem entioned variation sites w ere not found in C A D group. Conclu-sion T he variants of CAV1 and CAV3 m ay be correlated w ith a part of SU D group.
ABSTRACT
Objective T o analyse the genetic polym orphism s of 66 biallelic genetic m arkers on Y chro-m osom e in E astern C hinese H an population, and evaluate their values in forensic application. Methods G enotyping of 66 biallelic genetic m arkers on Y chrom osom e w as studied in 205 unrelated m ales of E astern C hinese H an population by m ultiplex PC R com bined m atrix-assisted laser desorption/ionization tim e-of-flight m ass spectrom etry (M A L D I-T O F-M S ). T he allele frequencies on the loci to be tested w ere calculated by direct counting m ethod, and the gene diversity (G D ) and haplotype diversity (H D ) w ere calculated by corresponding form ulas. T he haplotypes of this system w ere tested by softw are A rlequin v3.5.2.2 and the com parison of population genetics w ere analyzed. Results A total of 60 biallelic genetic m arkers on Y chrom osom e w ere polym orphic in m ales of E astern C hinese H an population, and the ranges of G D w ere from 0.0385 to 0.5019. E ighty-five different haplotypes w ere observed and the H D w as 0.9703. T he differences of partial SN P loci betw een the H an population of E astern C hina and that of X injiang and G uangdong w ere statistically significance. Conclusion Sixty biallelic genetic m arkers and the detection system can com plem entally provide genetic inform ation in kinship testing and individual identification. T he M A L D I-T O F-M S technology is able to type biallelic genetic m arkers.