Blanco R, Jara L, Villaseca C, Palomino H, Carreño H
Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, Santiago, Chile.
Rev Med Chil. 1998 Jul;126(7):781-7.
Recent studies in mice have demonstrated that the Msx-1 homebox gene is implicated in cleft palate. Thus, it has been suggested that its human homologue, MSX1 (HOX-7), located in chromosome 4 could be involved in the etiology of non syndromic cleft lip palate.
To study the linkage between non syndromic cleft palate and variations of MSX1 gene.
Seventy three patients with non syndromic cleft lip palate (34 simplex and 37 multiplex), 127 unaffected relatives of the cases (61 relatives of simplex cases and 66 relatives of multiplex cases) and 77 controls were studied. DNA was extracted from leukocytes and the intragenic microsatellite sequence was amplified by PCR.
A polymorphism of four alleles was observed, 1 (175 bp), 2 (173 bp), 3 (171 bp) and 4 (169 bp). Alleles 2 and 4 showed a joint variation in males with multiplex cleft lip palate and in their respective unaffected male relatives, that was significant when compared with male controls. Instead, the joint variation of alleles 1 and 4 of unaffected female relatives had significant differences with female controls. Females with multiplex cleft lip palate differed from female controls only in allele 1.
These results support the hypothesis of a genetic heterogeneity in the etiology of non syndromic cleft lip palate.
最近在小鼠身上的研究表明，Msx - 1同源框基因与腭裂有关。因此，有人提出，位于4号染色体上的人类同源基因MSX1（HOX - 7）可能参与非综合征性唇腭裂的病因。
研究非综合征性腭裂与MSX1基因变异之间的联系。
研究了73例非综合征性唇腭裂患者（34例单发和37例多发）、127例病例的未患病亲属（61例单发病例的亲属和66例多发病例的亲属）以及77例对照。从白细胞中提取DNA，并通过聚合酶链反应扩增基因内微卫星序列。
观察到四个等位基因的多态性，1（175 bp）、2（173 bp）、3（171 bp）和4（169 bp）。等位基因2和4在多发唇腭裂男性及其各自未患病的男性亲属中呈现联合变异，与男性对照相比具有显著性。相反，未患病女性亲属的等位基因1和4的联合变异与女性对照有显著差异。多发唇腭裂女性仅在等位基因1上与女性对照不同。
这些结果支持非综合征性唇腭裂病因存在遗传异质性的假说。
