Dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria (DSH) are pigmentary dermatoses most commonly seen in Japan. Both disorders usually show autosomal dominant inheritance, although in some cases autosomal recessive inheritance was reported. DSH was mapped to chromosome 1q21.3, and mutations in the gene ADAR (DSRAD) were identified in Japanese, Chinese and Taiwanese families with autosomal dominant DSH. A second locus for dyschromatosis was mapped on chromosome 6q24.2-q25.2 in two Chinese families initially reported to be affected with DSH, but later suggested to have autosomal dominant DUH. The aim of this study was to investigate whether one of these two loci is involved in the development of DUH in a consanguineous Bedouin family from Saudi Arabia with four affected and three unaffected sibs, clearly pointing to autosomal recessive inheritance. After excluding mutations in ADAR and linkage to the candidate regions on chromosomes 1 and 6, we performed an single nucleotide polymorphism-based genome-wide scan for linkage with other loci. Under the assumption of autosomal recessive inheritance, we have identified a new locus for dyschromatosis on chromosome 12q21-q23 in this Arab family with a maximum logarithm of the odds (LOD) score of 3.4, spanning a distance of 18.9 cM. Our study revealed the first locus for autosomal recessive DUH and supports recent evidence that DSH and DUH are genetically distinct disorders.

译文

:通用性色素沉着病(DUH)和对称性色素沉着病(DSH)是在日本最常见的色素性皮肤病。两种疾病通常都显示常染色体显性遗传,尽管在某些情况下据报道常染色体隐性遗传。 DSH被定位到1q21.3染色体上,并且在具有常染色体显性DSH的日本,中国和台湾家庭中发现了基因ADAR(DSRAD)的突变。在两个最初报告患有DSH的中国家庭的染色体6q24.2-q25.2上定位了第二个血色素异常的基因座,但后来提示它们具有常染色体显性DUH。这项研究的目的是调查这两个基因座之一是否参与沙特阿拉伯近亲贝都因人家族中有四个受影响和三个未受影响同胞的DUH的发育,明确指出常染色体隐性遗传。在排除ADAR中的突变以及与1号和6号染色体上候选区域的连锁后,我们进行了基于单核苷酸多态性的全基因组扫描,以寻找与其他基因座的连锁。在常染色体隐性遗传的假设下,我们在这个阿拉伯家庭中鉴定了染色体12q21-q23上色异常的新基因座,最大对数(LOD)得分为3.4,跨度为18.9 cM。我们的研究揭示了常染色体隐性DUH的第一个基因座,并支持DSH和DUH是遗传上不同的疾病的最新证据。

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