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[智利人群中(MSX1-7)基因变异与非综合征性唇腭裂的关联]

[Association of the genetic variation of (MSX1-7) and non syndromic cleft lip palate in Chilean subjects].

作者信息

Blanco R, Jara L, Villaseca M C

机构信息

Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, Santiago, Chile.

出版信息

Rev Med Chil. 1998 Jun;126(6):637-45.

PMID:9778871
Abstract

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.

摘要

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。

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