Jabs E W, Li X, Coss C A, Taylor E W, Meyers D A, Weber J L
Department of Pediatrics, Johns Hopkins Hospital, Baltimore, Maryland 21205.
Genomics. 1991 Sep;11(1):193-8.
Treacher Collins syndrome is an autosomal dominant disorder of abnormal craniofacial development. Linkage analysis was performed in Treacher Collins families with restriction fragment length or microsatellite polymorphisms associated with eight loci previously mapped to 5q31----qter. Positive lod scores were obtained for four loci, D5S119, D5S207, D5S209, and D5S210, which map to 5q31.3----q33.3. The Treacher Collins syndrome locus was linked closest to locus D5S210, which is associated with microsatellite polymorphisms, with a maximum lod score of 8.65 at theta = 0.02. The Treacher Collins syndrome locus was excluded from locus ADRB2R, which maps to 5q31----q32, and loci D5S22, D5S61, and D5S43, which map to 5q34----qter. There was no evidence for genetic heterogeneity among eight families with variable expression of the condition.
特雷彻·柯林斯综合征是一种常染色体显性遗传的颅面发育异常疾病。利用与先前定位于5q31----qter的8个基因座相关的限制性片段长度或微卫星多态性，对特雷彻·柯林斯综合征家系进行了连锁分析。在4个基因座D5S119、D5S207、D5S209和D5S210上获得了阳性连锁值，这些基因座定位于5q31.3----q33.3。特雷彻·柯林斯综合征基因座与基因座D5S210最紧密连锁，该基因座与微卫星多态性相关，在θ=0.02时最大连锁值为8.65。特雷彻·柯林斯综合征基因座被排除在定位于5q31----q32的基因座ADRB2R以及定位于5q34----qter的基因座D5S22、D5S61和D5S43之外。在8个病情表现各异的家系中，没有证据表明存在遗传异质性。
