PMID: 15449618Sep 29, 2004

The TGF-alpha gene Taq I polymorphism and non-syndromic cleft lip with or without cleft palate

Zhonghua zheng xing wai ke za zhi = Zhonghua zhengxing waike zazhi = Chinese journal of plastic surgery
Wen-Guang ZhangJie Liang

Abstract

To study the association of TGF-alpha gene Taq I polymorphism and nonsyndromic cleft lip with or without cleft palate (NSCL/P) in Chinese. 107 patients with NSCL/P and 136 healthy controls were examined for TGF-alpha/Taq I genotypes. TGF-alpha/Taq I typing was carried out by digesting the locus specific polymerase chain reaction amplified products with alleles specific Taq I restriction enzyme (PCR-RELP). The C2 allele frequency of TGF-alpha/Taq I in patients with NSCL/P (16%) was significantly higher than that in healthy controls (8%). The C2 genotype frequency of TGF-alpha/Taq I in NSCL/P patients with positive family history (12.5%) was significantly higher than that in healthy controls. These findings demonstrate the role of TGF-alpha as a gene of major effects in the development of nonsyndromic cleft lip with or without cleft palate clefts in human. These findings suggest that a family history of clefting may correlate with the TGF-alpha Taq I rare variation.

Related Concepts

Cleft Lip
Cleft Palate, Isolated
DNA, Double-Stranded
Genetic Equilibrium
Genetic Polymorphism
Restriction Fragment Length Polymorphism
Nested Polymerase Chain Reaction
Transforming Growth Factor alpha
Taq Polymerase

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