Genetic variants of BMP4/HpHI and IRF6 /MboI genes in two families with non syndromic cleft lip and palate patients

Abstract

Non syndromic cleft lip and palate (NS CL/P) is the most common craniofacial malformation in humans. Bone Morphogenetic Protein 4 (BMP4) and Interferon Regulatory Factor 6 (IRF6) have been consistently shown to be associated in NS CL/P from some human populations in the world. The aim of this study was to know the role of BMP4/HpHI and IRF6 /MboI gene polymorphisms in 2 families with NS CL/P and get to know whether there would be a risk factor for the rehearsal occurence of NS CL/P in the subsequent offspring through the probability analysis of the mutant genotypes. The study was laboratory descriptive design and the examination was performed in the form of pedigrees from 2 families from 3 generations with NS CL/P by using PCR-RFLP with HpHI and MboI restriction enzymes. The study results showed that the probability of TC mutant genotype of BMP4/HpHI gene polymorphism was 1/6 to be inherited in third generation of NS CL/P patients and the probablity of GA mutant genotype of IRF6/MboI gene polymorphism was 1/8 to be inherited in third generation of NS CL/P patients. The probability of the children with BMP4/HpHI and IRF6/MboI gene polymorphisms are greater when their grandparents or parents were also recognize to have BMP4/HpHI and IRF6 /MboI gene polymorphisms.

Keywords: nonsyndromic CL/P; genetic variants; inherited pattern; BMP4/HpHI; IRF6 /MboI