对加拿大东部一个患有达里埃病（毛囊角化病）的家族中的24个基因座进行遗传连锁评估。
Genetic linkage evaluation of twenty-four loci in an eastern Canadian family segregating Darier's disease (keratosis follicularis).
作者信息
Sidenberg D G, Berg D, Bassett A S, King N, Petronis A, Kamble A B, Kennedy J L
机构信息
Neurogenetics Section, Clarke Institute of Psychiatry, Toronto, Ontario, Canada.
出版信息
J Am Acad Dermatol. 1994 Jul;31(1):27-30. doi: 10.1016/s0190-9622(94)70130-x.
BACKGROUND
Darier's disease (keratosis follicularis) is known to have a genetic cause as evidenced by its autosomal dominant transmission in families. The gene causing this disease has not been discovered.
OBJECTIVE
During an ongoing linkage study of schizophrenia, a family segregating Darier's disease was found. This family is being studied in an attempt to locate prospective regions that may contain the Darier's disease gene.
METHODS
Two genetic strategies are being employed: (1) testing candidate genes for the disorder and (2) scanning the entire genome with polymerase chain reaction-based microsatellite markers.
RESULTS
Thirty-nine marker systems located on chromosomes 1, 2, 4, 5, 6, 9, 11, 12, 16, 17, 22, X, and Y have been genotyped. Slightly positive lod scores were achieved between six markers and Darier's disease. The remaining 33 markers were nonsegregating or indeterminate, or revealed an obligate recombinant.
CONCLUSION
Linkage analysis can lead to localization of the gene causing Darier's disease. In these preliminary studies low positive lod scores were obtained, potentially pointing to the chromosomal location of the Darier's disease gene.
背景
Darier病（毛囊角化病）已知具有遗传病因，家族中的常染色体显性遗传即为证据。导致该病的基因尚未被发现。
目的
在一项正在进行的精神分裂症连锁研究中，发现了一个分离出Darier病的家系。正在对这个家系进行研究，试图定位可能包含Darier病基因的潜在区域。
方法
采用两种遗传策略：（1）检测该疾病的候选基因；（2）用基于聚合酶链反应的微卫星标记扫描整个基因组。
结果
对位于1、2、4、5、6、9、11、12、16、17、22、X和Y染色体上的39个标记系统进行了基因分型。6个标记与Darier病之间获得了略为阳性的连锁值。其余33个标记不分离或不确定，或显示为必然重组体。
结论
连锁分析可导致定位引起Darier病的基因。在这些初步研究中获得了低的阳性连锁值，可能指向Darier病基因的染色体位置。
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