在一个德国家庭中，8号染色体短臂上靠近无毛基因座的一个独特基因是遗传性Marie Unna型少毛症的基础。
A distinct gene close to the hairless locus on chromosome 8p underlies hereditary Marie Unna type hypotrichosis in a German family.
作者信息
Cichon S, Kruse R, Hillmer A M, Kukuk G, Anker M, Altland K, Knapp M, Propping P, Nöthen M M
机构信息
Institute of Human Genetics, University of Bonn, Wilhelmstr. 31, 53111 Bonn, Germany.
出版信息
Br J Dermatol. 2000 Oct;143(4):811-4. doi: 10.1046/j.1365-2133.2000.03781.x.
BACKGROUND
Hypotrichosis of the Marie Unna type (HMU) is a rare autosomal dominant disorder characterized by male-pattern hair loss with childhood onset and anomalies of the hair shaft.
OBJECTIVES
We aimed to evaluate a number of chromosomal loci as possible candidate regions for HMU.
METHODS
A linkage analysis was performed in a large German family using microsatellite markers spanning candidate regions on chromosomes 8, 12 and 17.
RESULTS
We found that the HMU locus maps to chromosomal region 8p21 in a 13.01-cM interval between markers D8S1145 and D8S1771. This interval harbours the hairless gene (HR). Mutational analysis of HR on the genomic and transcript levels revealed no pathogenic mutation.
CONCLUSIONS
Our findings, together with a recent report of two unrelated families of Dutch and British origin, provide evidence for a hair growth regulatory gene distinct from HR in chromosomal region 8p21.
背景
玛丽·安那型少毛症（HMU）是一种罕见的常染色体显性疾病，其特征为男性型脱发，发病于儿童期，且毛干存在异常。
目的
我们旨在评估多个染色体位点作为HMU可能的候选区域。
方法
利用跨越8号、12号和17号染色体上候选区域的微卫星标记，对一个大型德国家庭进行连锁分析。
结果
我们发现HMU基因座定位于8号染色体区域8p21，在标记D8S1145和D8S1771之间的13.01厘摩区间内。该区间包含无毛基因（HR）。对HR在基因组和转录水平的突变分析未发现致病突变。
结论
我们的研究结果，连同最近一份关于两个来自荷兰和英国的无亲缘关系家庭的报告，为8号染色体区域8p21中存在一个不同于HR的毛发生长调节基因提供了证据。
Zotero 插件