Abstrakt

Role of PAX1 gene in the occurrence of human neural tube defects: a study in North Indian population

Roumi Deb1, Jyoti Arora, Ratika Samtani, Saraswathy KN and Kalla KA

Neural Tube Defects is a collection of conditions related to the opening in the spinal cord or brain region that occurs in 3rd or 4th week of embryonic development. The worldwide incidence ranges from 1 to 10 infants per 1,000 births. The multifactorial etiology involves a variety of environmental and genetic risk factors. The present study assesses the role of maternal PAX gene mutations in the causation of NTD affected pregnancies in North Indian Population. The paired domain region was screened for mutations among 100 case mothers and 100 control mothers using High Resolution Melting curve analysis, followed by sequencing. A known synonymous single nucleotide polymorphism at 609, G to A, was observed among 4 case mothers but none among control mothers. The findings of the present study might suggestthe possibility of the effect of PAX1 G609A polymorphism, a silent mutation on the occurrence of neural tube defects. However, large scale trio studies are required to understand the role of maternal genomic imprinting to bring out conclusive results.