瓦登伯革氏综合征（WS）：对一个携带WS1突变且与人类2号染色体q臂上的限制性片段长度多态性（RFLP）标记连锁的单一家系的分析。
Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q.
作者信息
Asher J H, Morell R, Friedman T B
机构信息
Department of Zoology, Michigan State University, East Lansing 48824.
出版信息
Am J Hum Genet. 1991 Jan;48(1):43-52.
Waardenburg syndrome type I (WS1; MIM 19350) is caused by a pleiotropic, autosomal dominant mutation with variable penetrance and expressivity. Of individuals with this mutation, 20%-25% are hearing impaired. A multilocus linkage analysis of RFLP data from a single WS1 family with 11 affected individuals indicates that the WS1 mutation in this family is linked to the following four marker loci located on the long arm of chromosome 2: ALPP (alkaline phosphatase, placental), FN1 (fibronectin 1), D2S3 (a unique-copy DNA segment), and COL6A3 (collagen VI, alpha 3). For the RFLP marker loci, a multilocus linkage analysis using MLINK produced a peak lod (Z) of 3.23 for the following linkage relationships and recombination fractions (theta i): (ALPP----.000----FN1)----.122----D2S3----.267----CO L6A3. A similar analysis produced a Z of 6.67 for the following linkage relationships and theta i values among the markers and WS1: (FN1----.000----WS1----.000----ALPP)----.123----D2S 3----.246----COL6A3. The data confirm the conclusion of Foy et al. that at least some WS1 mutations map to chromosome 2q.
Ⅰ型瓦登伯革氏综合征（WS1；MIM 19350）由一种具有多效性、常染色体显性的突变引起，其外显率和表现度各不相同。携带这种突变的个体中，20%-25%有听力障碍。对一个有11名患者的单一WS1家族的RFLP数据进行多位点连锁分析表明，该家族中的WS1突变与位于2号染色体长臂上的以下四个标记位点连锁：ALPP（胎盘碱性磷酸酶）、FN1（纤连蛋白1）、D2S3（一个单拷贝DNA片段）和COL6A3（胶原蛋白VI，α3）。对于RFLP标记位点，使用MLINK进行的多位点连锁分析得出了以下连锁关系和重组率（θi）的最高lod（Z）值为3.23：（ALPP----.000----FN1）----.122----D2S3----.267----COL6A3。类似分析得出了以下标记与WS1之间的连锁关系和θi值的Z值为6.67：（FN1----.000----WS1----.000----ALPP）----.123----D2S3----.246----COL6A3。这些数据证实了Foy等人的结论，即至少一些WS1突变定位于2q染色体。
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