Association between alleles of the transforming growth factor-alpha locus and the occurrence of cleft lip.
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.
Sassani
R
R
Department of Genetics, University of Pennsylvania, School of Medicine, Philadelphia 19104.
Bartlett
S P
SP
Feng
H
H
Goldner-Sauve
A
A
Haq
A K
AK
Buetow
K H
KH
Gasser
D L
DL
D000483:Alleles; D044466:Asian People / Q000235:genetics; D044383:Black People / Q000235:genetics; D002648:Child; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics; D004247:DNA / Q000235:genetics; D005787:Gene Frequency; D008040:Genetic Linkage; D006801:Humans; D008957:Models, Genetic; D012150:Polymorphism, Restriction Fragment Length; D016211:Transforming Growth Factor alpha / Q000235:genetics*; D044465:White People / Q000235:genetics; D001741:Black or African American
D016211:Transforming Growth Factor alpha; D004247:DNA