囊性纤维化突变与CFTR基因内多态性4碱基重复序列之间的连锁不平衡。

Linkage disequilibrium between cystic fibrosis mutations and polymorphic 4-bp repeat within CFTR gene.

作者信息

Gaitskhoki V S, Voronina O V, Kirjukhina L V, Gembitskaya T E, Kapranov N I, Petrova N V, Khafizova Z A, Schwartz E I

机构信息

Institute for Experimental Medicine, Russian Academy of Medical Sciences, St. Petersburg.

出版信息

Biochem Med Metab Biol. 1993 Oct;50(2):186-9. doi: 10.1006/bmmb.1993.1060.

DOI:10.1006/bmmb.1993.1060

PMID:7505092

Abstract

The PCR technique was used in a study of the linkage of cystic fibrosis mutations and a polymorphic (GATT)n repeat in intron 6 of the CFTR gene. Absolute linkage disequilibrium was found between the common delta F-508 mutation and the (GATT)6 allele. This allele was also in linkage disequilibrium with other unidentified mutations in the CFTR gene resulting in the pancreatic insufficient form of disease. The frequency of (GATT)n alleles in the pancreatic sufficient form of CF did not differ significantly from the data obtained in the total population. The significance of the (GATT)n polymorphic repeat for the diagnosis of CF is discussed.

摘要

聚合酶链反应（PCR）技术被用于一项关于囊性纤维化突变与CFTR基因第6内含子中多态性（GATT）n重复序列连锁关系的研究。在常见的ΔF-508突变与（GATT）6等位基因之间发现了完全连锁不平衡。该等位基因还与CFTR基因中其他未明确的突变存在连锁不平衡，这些突变导致了胰腺功能不全型疾病。胰腺功能正常型囊性纤维化中（GATT）n等位基因的频率与在总人口中获得的数据相比，差异无统计学意义。文中讨论了（GATT）n多态性重复序列在囊性纤维化诊断中的意义。