Bale S J
Genetic Studies Section/ LSB/ National Institute of Arthritis & Musculoskeletal & Skin Disease/ National Institutes of Health, Bethesda, Maryland 20892-2757, USA.
J Cutan Med Surg. 1999 Apr;3(4):207-10. doi: 10.1177/120347549900300411.
A review is presented of the recent progress made in mapping of the hereditary skin disease "Ferguson-Smith multiple self-healing squamous epithelioma."
The use of founder effects in an autosomal dominant disease is reviewed as applied to gene mapping efforts.
A common haplotype among Scottish families segregating Ferguson-Smith disease allowed the narrowing of the candidate gene interval and the identification of several possible disease-associated genes.
The gene for Ferguson-Smith multiple self-healing squamous epithelioma lies in a narrow region on chromosome 9q, along with several other important hereditary skin disease loci.
本文综述了遗传性皮肤病“弗格森 - 史密斯多发性自愈性鳞状上皮瘤”基因定位研究的最新进展。
回顾了在常染色体显性疾病中利用奠基者效应进行基因定位研究的情况。
在患有弗格森 - 史密斯病的苏格兰家族中发现了一个常见单倍型，这使得候选基因区间得以缩小，并确定了几个可能与疾病相关的基因。
弗格森 - 史密斯多发性自愈性鳞状上皮瘤的致病基因位于9号染色体长臂的一个狭窄区域内，该区域还有其他几个重要的遗传性皮肤病基因位点。
