双相情感障碍家族与18号染色体标记的连锁分析。

Linkage analysis of families with bipolar illness and chromosome 18 markers.

作者信息

De bruyn A, Souery D, Mendelbaum K, Mendlewicz J, Van Broeckhoven C

机构信息

Born Bunge Foundation, Department of Biochemistry, University of Antwerp (UIA), Belgium.

出版信息

Biol Psychiatry. 1996 Apr 15;39(8):679-88. doi: 10.1016/0006-3223(95)00293-6.

DOI:10.1016/0006-3223(95)00293-6

PMID:8731454

Abstract

Linkage of bipolar (BP) illness with chromosome 18 markers located at 18p11 was recently reported. A possible role for chromosome 18 in the etiology of BP illness was implicated previously by the finding in three unrelated patients of a ring chromosome with breakpoints and deleted segments at 18pter-p11 and 18q23-qter. To test the potential importance of a gene defect on chromosome 18 in our material, we examined linkage with chromosome 18 markers in two families with multiple patients with BP illness or BP spectrum disorders. fourteen simple tandem repeat polymorphisms were used located in the chromosomal region 18p11 to 18q23 and separated by distances of approximately 10 cM on the genetic map. In one family linkage to chromosome 18 could not be excluded. Linkage and segregation analysis in the family suggests that the 12-cM region between D18S51 and D18S61 located at 18q21.33-q23 may contain a candidate gene for BP illness.

摘要

最近有报道称双相情感障碍（BP）疾病与位于18p11的18号染色体标记存在连锁关系。先前在三名无亲缘关系的患者中发现了一条环形染色体，其断点和缺失片段位于18pter - p11和18q23 - qter，这暗示了18号染色体在BP疾病病因学中可能发挥的作用。为了检验我们研究材料中18号染色体上基因缺陷的潜在重要性，我们在两个有多名BP疾病或BP谱系障碍患者的家族中检测了与18号染色体标记的连锁关系。使用了14个简单串联重复多态性，它们位于染色体区域18p11至18q23，在遗传图谱上相隔约10厘摩的距离。在一个家族中，不能排除与18号染色体的连锁关系。对该家族的连锁和分离分析表明，位于18q21.33 - q23的D18S51和D18S61之间的12厘摩区域可能包含BP疾病的一个候选基因。