摘要
D13S26位点位于13q21.1～q21.2,与Wilson病基因位点相距约3.8分摩(centimor-gan,cm).中国人D13S26位点的多态等位片段与白种人相同,但各等位片段的频率两者差异明显,中国人HphI酶切点的多态信息最高,杂合率约0.5。应用D13S26位点对3个Wilson病家系进行连锁分析,证实D13S26/HphI可用于Wilson病的症状前诊断。
The D13S26 locus has been mapped to 13q21 .1-q21.2 and is linked with Wilson disease gene at a distance of 3.8 centimorgans. The polymorphic alleles detected by HphI, EcoRI and Bell at the D13S26 locus are the same in Chinese as in Caucasians, but the allele frequencies are quite different. As calculated from 30 unrelated Chinese individuals, the allele frequencies were as follows: HphI 2.8 kb(0.47)/2.0kb(0.53): EcoRI 9.0 kb (0.02)/8.0 kb (0.98); BclI 6.3 kb (0.02)/5.6 kb (0.98). Cosegregation analysis of the D13S26 locus and Wilson disease locus was carried out in 3 families with the disease. In one of these families, the proband and his younger sister (7-years-old and phenotypi-cally normal) were both heterozygous for this site. We predict with 85.6% confidence that the younger sister is in the presymptomatic stage of Wilson disease.
出处
《中国医学科学院学报》
CAS
CSCD
北大核心
1992年第3期206-209,共4页
Acta Academiae Medicinae Sinicae
基金
国家自然科学基金
美国CMB基金
关键词
肝豆状核变性
DNA
多态性现象
hepatoleaticular degeneration DNA polymorphism diagnosis
