关于16号染色体短臂上的躁郁症与磷酸乙醇酸磷酸酶（PGP）之间存在关联的推测。

Suggestion of linkage between manic-depressive illness and the enzyme phosphoglycolate phosphatase (PGP) on chromosome 16p.

作者信息

Eiberg H, Ewald H, Mors O

机构信息

University Institute of Medical Biochemistry & Genetics, Danish Centre for Human Genome Research, Copenhagen.

出版信息

Clin Genet. 1993 Nov;44(5):254-7. doi: 10.1111/j.1399-0004.1993.tb03892.x.

DOI:10.1111/j.1399-0004.1993.tb03892.x

PMID:8313623

Abstract

Two large Danish pedigrees with manic-depressive illness (MDI) were ascertained through bipolar probands. The pedigrees include bipolar as well as unipolar cases. An autosomal dominant mode of inheritance with incomplete penetrance was assumed. Linkage relationships between MDI and 37 autosomal serum, enzyme and blood group markers were investigated. For phosphoglycolate phosphatase, a maximum lod score of 2.20 at 0% recombination was found for the largest family. The other family was not informative. This may suggest assignment of a major gene for MDI to chromosome 16p13.

摘要

通过双相情感障碍先证者确定了两个患有躁郁症（MDI）的大型丹麦家系。这些家系包括双相情感障碍以及单相情感障碍病例。假定其遗传方式为常染色体显性遗传且外显不全。研究了MDI与37种常染色体血清、酶和血型标记之间的连锁关系。对于磷酸乙醇酸磷酸酶，在最大的家系中，重组率为0%时的最大对数优势得分为2.20。另一个家系未提供有用信息。这可能表明将MDI的一个主要基因定位于染色体16p13。