在两组多个成员受累的家庭中，19号染色体长臂上的标记与非综合征性唇裂伴或不伴腭裂之间存在关联的证据。
Evidence for an association between markers on chromosome 19q and non-syndromic cleft lip with or without cleft palate in two groups of multiplex families.
作者信息
Wyszynski D F, Maestri N, McIntosh I, Smith E A, Lewanda A F, Garcia-Delgado C, Vinageras-Guarneros E, Wulfsberg E, Beaty T H
机构信息
Department of Epidemiology, School of Hygiene and Public Health, Johns Hopkins University, Baltimore, MD 21205, USA.
出版信息
Hum Genet. 1997 Jan;99(1):22-6. doi: 10.1007/s004390050303.
It has been reported that BCL3 on chromosome 19q, or a nearby gene, may play a role in the etiology of non-syndromic cleft lip with or without cleft palate (NSCL/P) in some families. We tested 30 USA and 11 Mexican multiplex NSCL/P families for four markers on chromosome 19q: D19S178, APOC2/AC1, APOC2/007, and BCL3. While likelihood-based linkage analysis failed to show significant evidence of linkage, the transmission disequilibrium test indicated highly significant deviation from independent assortment of allele 3 at the BCL3 marker in both data sets (USA:P = 0.001; Mexican: P = 0.018; both combined: P < 0.001) and for allele 13 of the D19S178 marker in the Mexican data set (P = 0.004). These results support an association, possibly due to linkage disequilibrium, between chromosome 19 markers and a putative NSCL/P locus.
据报道，19号染色体上的BCL3或其附近的一个基因可能在一些家族性非综合征性唇裂伴或不伴腭裂（NSCL/P）的病因中起作用。我们对30个美国家庭和11个墨西哥多重NSCL/P家庭进行了19号染色体上四个标记的检测：D19S178、APOC2/AC1、APOC2/007和BCL3。虽然基于似然性的连锁分析未能显示出显著的连锁证据，但传递不平衡检验表明，在两个数据集中，BCL3标记的等位基因3的独立分配均存在高度显著偏差（美国：P = 0.001；墨西哥：P = 0.018；两者合并：P < 0.001），在墨西哥数据集中，D19S178标记的等位基因13也存在显著偏差（P = 0.004）。这些结果支持19号染色体标记与假定的NSCL/P基因座之间存在关联，可能是由于连锁不平衡所致。
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