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The Genetic Heterogeneity of Marie Unna Hereditary Hypotrichosis
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- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF DERMATOLOGY
- Issue:
- 10
- DOI:
- 10.3760/j.issn:0412-4030.2005.10.003
- Key Word:
- 稀毛症;连锁(遗传学);单倍性;遗传异质性
Abstract： 目的对中国汉族人Marie Unna遗传性稀毛症进行基因组精细定位,从而为进一步找到该病的致病基因奠定基础.方法用覆盖8p21的18个微卫星标记对2个家系进行局部基因组扫描,利用Linkage软件(5.10版)和Cyrillic软件(2.02版)进行连锁和单倍型分析.结果家系1在常染色体显性遗传模式、外显率为99.9%时,在8号染色体上的微卫星标记D8S298和D8S1725处获得LODS(连锁分数)为3.01(θ=0.00);单倍型分析将其定位于D8S282～D8S1839之间的1.1 cM内.家系2的连锁分析排除与8p21连锁.结论Marie Unna遗传性稀毛症存在遗传异质性.
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