ASSOCIATION BETWEEN ALLELES OF THE TRANSFORMING GROWTH FACTOR-ALPHA LOCUS AND THE OCCURRENCE OF CLEFT-LIP

作者：SASSANI R; BARTLETT SP; FENG HS; GOLDNERSAUVE A; HAQ AK; BUETOW KH; GASSER DL

来源：American Journal of Medical Genetics, 1993, 45(5): 565-569.

DOI：10.1002/ajmg.1320450508

• CLEFT LIP
• TFGA
• CL/P

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 (chi2 = 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 chi2 value for the pooled sample was 5.08 (P = 0.02). This confirms the hypothesis of Ardinger et al. [1989, Am J Hum Genet, 45:348-3531 that TFGA itself or a closely linked gene contributes to the development of CL/P in humans.

• 出版日期1993-3-1