Balkan Journal of Medical Genetics

ANALYSIS OF MICROSATELLITE POLYMORPHISMS IN SOUTH INDIAN PATIENTS WITH NON SYNDROMIC CLEFT LIP AND PALATE
Xavier DL1,* Arif YA1, Murali RV1, Kishore Kumar S1, Vipin Kumar S2, Tamang R2, Thangaraj K2, Bhaskar LVKS3
*Corresponding Author: Dr. Dhayananth L. Xavier, Department of Orthodontics, Sree Balaji Dental College, Pallikaranai, Chennai, India; Tel.: +91-44-22461883; E-mail: drxavy@gmail.com
page: 49

INTRODUCTION

Cleft lip and palate are birth defects that affect children with a variable phenotype. Approximately 70.0% of cleft lip and palate cases are non syndromic, occurring as an isolated condition dissociated with any recognizable anomalies [1]. Non syndromic cleft lip, with or without cleft palate (NSCLP), is a heterogeneous, complex disease with a high incidence in the Asian populations. Non syndromic cleft lip and palate is a common craniofacial malformation with a complex genetic component. Multiple environmental factors are known to trigger the cleft formation, although both physiologic, pharmacologic and genetic studies in animal models and human populations have identified several candidate genes and pathways that regulate transcription factors, growth factors, cell signaling and de-toxification metabolisms [2,3]. The genetic components of cleft that underlie the susceptibility to respond to the environment still remain largely unclear [4]. Previous studies revealed that the disease-contributing alleles in many genes, but none of these seem to play a major role in NSCLP, and they appear to be responsible for only a fraction of NSCLP cases [5]. Linkage studies screen the whole genome and use parametric or non parametric methods such as allele sharing methods with no assumptions on the mode of inheritance, penetrance or disease allele frequency. Although single nucleotide polymorphisms (SNPs) are preferable markers for association studies, the density of SNPs required is not yet identified because of their low mutation rates. Microsatellites are the most preferred markers for linkage analysis and population genetic studies because of their high mutation rates. As they are highly informative, recent genome wide association studies used these markers to identify the genes involved in the complex diseases. A large number of studies of NSCLP have been conducted mainly in Caucasian populations. However, it is desirable to perform similar studies in different ethnic groups of India to reiterate the status of the association or linkage identified in other world populations. In India, there are approximately 5,000 anthropologically well-defined populations including different caste, tribe and religious groups. Linguistically, the Indian populations are classified into four major language families, such as: Indo-European, Austro-Asiatic, Dravidian and Tibeto-Burman. Indo- Europeans are mainly found in the northern part of the country; Austro-Asiatic speakers have established themselves in central and north eastern states; Tibeto- Burmans mostly inhabit the northeastern states and the foothills of the Himalayas; and Dravidians are restricted to the southern states of India, including Tamil Nadu, Kerala Karnataka and Andhra Pradesh. In the present study, we have analyzed microsatellite markers from five different genes that play a major role in cell signalling pathways and transcriptional regulation of genes involved embryonic development.

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