转化生长因子-α基因座等位基因与唇裂发生之间的关联。

Association between alleles of the transforming growth factor-alpha locus and the occurrence of cleft lip.

作者信息

Sassani R, Bartlett S P, Feng H, Goldner-Sauve A, Haq A K, Buetow K H, Gasser D L

机构信息

Department of Genetics, University of Pennsylvania, School of Medicine, Philadelphia 19104.

出版信息

Am J Med Genet. 1993 Mar 1;45(5):565-9. doi: 10.1002/ajmg.1320450508.

DOI:10.1002/ajmg.1320450508

PMID:8096116

Abstract

DNA samples from 100 patients with cleft lip with or without cleft palate (CL/P) were compared with those of 98 unaffected control individuals with respect to transforming growth factor alpha (TGFA) genotypes. Among the Caucasians in this population (83 CL/P, 84 controls), there was a significant difference in the restriction fragment length polymorphisms (RFLPs) observed after digestion with TaqI (chi 2 = 4.68, P = 0.03). The frequency of the C2 allele in the Caucasian CL/P population was 0.169, whereas that in the control group was 0.089. When the data for Caucasians, African-Americans, and Asians were examined jointly, the chi 2 value for the pooled sample was 5.08 (P = 0.02). This confirms the hypothesis of Ardinger et al. [1989, Am J Hum Genet, 45:348-353] that TFGA itself or a closely linked gene contributes to the development of CL/P in humans.

摘要

将100例唇裂伴或不伴腭裂（CL/P）患者的DNA样本与98例未受影响的对照个体的DNA样本进行转化生长因子α（TGFA）基因型比较。在该人群的白种人（83例CL/P患者，84例对照）中，用TaqI消化后观察到的限制性片段长度多态性（RFLP）存在显著差异（χ2 = 4.68，P = 0.03）。白种人CL/P人群中C2等位基因的频率为0.169，而对照组为0.089。当联合检查白种人、非裔美国人和亚洲人的数据时，合并样本的χ2值为5.08（P = 0.02）。这证实了Ardinger等人[1989年，《美国人类遗传学杂志》，45:348 - 353]的假设，即TFGA本身或一个紧密连锁的基因促成了人类CL/P的发生。