STR基因座中检出三带型等位基因三例及遗传分析  

Genetic analysis of 3 tri-allelic variant cases in paternity identification

作　　者：韩莉莉[1,2] 潘棱[1,2] 沈晓丽[1,2] 林赛梅[1,2] 林立芳[1,2] 唐海燕[1,2] 胡洁[1,2] 

机构地区：[1]福建医科大学省立临床医学院 [2]福建省立医院司法鉴定所福建省心血管病重点实验室,福建福州350001

出　　处：《海南医学》2011年第15期1-3,共3页Hainan Medical Journal

摘　　要：目的探讨亲子鉴定中三带型等位基因的特点。方法对5000个个体利用Chelex法提取血液DNA,通过复合荧光扩增和毛细管电泳确定DNA-STR基因型,对于D21S11三带型者进一步进行染色体核型分析。结果 4个个体STR基因座出现三带型等位基因现象,1个在D3S1358基因座,2个在D13S317基因座,1个在D21S11基因座,而D21S11三带型基因者经染色体核型分析被确诊为21三体综合征。结论三带型等位基因在STR基因座中极少出现,应用不同试剂盒加以验证,如怀疑三体综合征还应做染色体核型分析。Objective To investigate the genetic features of three-banded alleles and overview. Methods Chelex method was used to extract DNA from 5 000 individuals, we determined DNA-STR genotype by multiplex fluorescent amplication and capillary electrophoresis, and karyotype analysis were used to test trisomy syndrome. Results 4 individuals were confirmed to have three-banded alleles, 1 in D3S1358 locus,2 in D13S317 locus , and 1 in D21S11 locus which was diagnosed to be Down syndrome by karyotype analysis. Conclusion It is seldom to detect three-banded allele.Different amplication kit should be used to confirm three-banded allele, and karyotype analysis is recommended to diagnose trisomy syndrome.

关 键 词：短串联重复序列 三带型等位基因 亲子鉴定 

分 类 号：R394[医药卫生—医学遗传学]