人类19号染色体上载脂蛋白CII基因座内的DNA多态性与连锁不平衡。

DNA polymorphism and linkage disequilibrium within the apolipoprotein CII locus on human chromosome 19.

作者信息

MacKenzie A E, MacLeod H L, Leblond S C, Monteith N, Lahey D, Korneluk R G

机构信息

Division of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.

出版信息

Hum Hered. 1991;41(3):188-94. doi: 10.1159/000153999.

DOI:10.1159/000153999

PMID:1682238

Abstract

The gene for human apolipoprotein CII (APOCII) is located on the proximal long arm of chromosome 19. It has been established as a closely linked marker for myotonic dystrophy (DM), the most common form of adult muscular dystrophy. In the present linkage study, we have analysed 6 APOCII RFLPs in 213 haplotypes: TaqI, 3.8/3.5 kb; BgII, 12.0/9.0 kb; BanI, 2.5/1.6 kb; BamHI, 6.0/4.9 kb; NcoI, 14.5/11.5 kb, and AvaII, 0.6/0.4 kb. The polymorphic enzyme sites were determined to be present at the following frequencies: TaqI, 0.43; BglI, 0.51; BanI, 0.25; BamHI, 0.99; NcoI, 0.51, and AvaII, 0.52. Ordering of the polymorphic sites, 5'----3', has been determined to be (NcoI-BglI)-AvaII-BanI-TaqI. Significant disequilibrium was seen between 5 of the APOCII RFLPs.

摘要

人类载脂蛋白CII（APOCII）基因位于19号染色体长臂近端。它已被确定为强直性肌营养不良（DM）的紧密连锁标记，DM是成人肌营养不良最常见的形式。在本次连锁研究中，我们分析了213个单倍型中的6个APOCII限制性片段长度多态性（RFLP）：TaqI，3.8/3.5 kb；BgII，12.0/9.0 kb；BanI，2.5/1.6 kb；BamHI，6.0/4.9 kb；NcoI，14.5/11.5 kb，以及AvaII，0.6/0.4 kb。已确定多态性酶切位点的出现频率如下：TaqI为0.43；BglI为0.51；BanI为0.25；BamHI为0.99；NcoI为0.51，AvaII为0.52。已确定多态性位点从5'到3'的顺序为（NcoI - BglI）- AvaII - BanI - TaqI。在5个APOCII RFLP之间观察到显著的不平衡。