Blanco R, Jara L, Villaseca M C
Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, Santiago, Chile.
Rev Med Chil. 1998 Jun;126(6):637-45.
BACKGROUND: Homeotic genes have regulatory functions during development. It has been postulated that the human Msx-1 homeotic gene can be involved in the etiology of non syndromic cleft lip palate, since its homologous Msx-1 is involved in cleft palate of mice. AIM: To perform an association analysis between the genetic variation of Msx-1 and non syndromic cleft lip palate in Chilean subjects. PATIENTS AND METHODS: Seventy patients with non syndromic cleft lip palate, 136 healthy relatives of these patients and 69 non related normal individuals were studied. CA microsatellite in Msx-gene, that was amplified with PCR, was studied. RESULTS: No differences in the genetic frequencies of Msx-1 alleles, were observed in the three groups studied. Allelic heterogeneity for allele 2 seems to be related to cases of non syndromic cleft lip palate from multiplex families and heterogeneity for allele 3 is related with simplex families cases. CONCLUSIONS: These results seem to support the hypothesis of genetic heterogeneity in the etiology of non syndromic cleft lip palate.
背景：同源异型基因在发育过程中具有调控功能。据推测，人类Msx-1同源异型基因可能参与非综合征性唇腭裂的病因学，因为其同源基因Msx-1参与小鼠腭裂的形成。 目的：对智利人群中Msx-1基因变异与非综合征性唇腭裂进行关联分析。 患者与方法：研究了70例非综合征性唇腭裂患者、136例这些患者的健康亲属以及69例无关正常个体。对通过PCR扩增的Msx基因中的CA微卫星进行了研究。 结果：在所研究的三组中，未观察到Msx-1等位基因的基因频率存在差异。等位基因2的等位基因异质性似乎与多发型家庭的非综合征性唇腭裂病例有关，等位基因3的异质性与单发型家庭病例有关。 结论：这些结果似乎支持非综合征性唇腭裂病因学中基因异质性的假说。
Genet Epidemiol. 2002-1
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