β-淀粉样前体蛋白基因内的高度多态性重复标记。

Highly polymorphic repeat marker within the beta-amyloid precursor protein gene.

作者信息

Zappata S, Petersen M B, König U, Blaschak J, Chakravarti A, Tassone F, Serra A, Antonarakis S E, Brahe C

机构信息

Institute of Medical Genetics, A. Gemelli School of Medicine, Catholic University, Rome, Italy.

出版信息

Hum Genet. 1994 Jan;93(1):85-6. doi: 10.1007/BF00218922.

DOI:10.1007/BF00218922

PMID:8270262

Abstract

We have identified a polymorphic compound dinucleotide repeat sequence in intron 1 of the beta-amyloid precursor protein (APP) gene on chromosome 21. Using polymerase chain reaction (PCR) amplification of the locus, designated APPivs1, we detected 13 alleles in the CEPH family members (heterozygosity = 0.69). Lod score analysis showed complete linkage of the marker to the loci D21S210 and D21221.

摘要

我们在21号染色体上的β-淀粉样前体蛋白（APP）基因的第1内含子中鉴定出一个多态性复合二核苷酸重复序列。通过对指定为APPivs1的位点进行聚合酶链反应（PCR）扩增，我们在CEPH家族成员中检测到13个等位基因（杂合度 = 0.69）。连锁分析表明该标记与D21S210和D21221位点完全连锁。