ASSOCIATION OF VARIANT IN INTERFERON REGULATORY FACTOR 6 IN CLEFT LIP AND PALATE CASES AND MATERNAL BLOOD GROUPS
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Keywords
NSCLP, IRF 6 gene, Maternal ABO blood groups, Aberration, Genetic
Abstract
Background: Cleft Lip and Palate (CLP) is among the most predominant developmental craniofacial aberration in humans. The global prevalence of CLP varies significantly by geographic region and ethnicity. About 30% of CLP are syndromic and 70% are non-syndromic According to WHO estimates the prevalence rate of CLP is approximately 1/700- 1/1000. Interferon Regulatory Factor 6 (IRF6) gene have been repeatedly found to show association with non-syndromic CLP (NSCLP).
Objectives: To associate a targeted variant rs 2235371 in Interferon regulatory 6 gene in cleft lip and palate (NSCLP) patients with maternal blood groups.
Methods: 39 NSCLP patients and their 39 unaffected mothers participated. NSCLP cases were grouped into three categories. About 3 ml of blood was drawn aseptically from NSCLP patients. DNA isolation was done followed by Polymerase chain reaction. Genotyping of targeted variant was done and checked for association with maternal ABO blood groups. Blood was also drawn from mothers of the cases for blood grouping.
Results: rs 2235371 polymorphism was detected in NSCLP in low frequency in 4 cases. In maternal blood groups CC Homozygous genotype was most predominantly found in A and O + blood group with 11 cases whereas in CT genotype A + was the commonest with 2 cases. Statistically insignificant relationship was found in mother’s blood groups with SNP.
Conclusion: No significant association was found among rs 2235371 and mother’s ABO blood groups.
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Tehmina Naushin
Assistant Professor Oral Pathology, Peshawar Dental College Peshawar, Pakistan
Sajjad Ahmed
Professor Histopathology and Morbid Anatomy, Peshawar Medical College, Peshawar, Pakistan
Sidra Mahmood
House Officer, Kabir Medical College, Gandhara University Peshawar, Pakistan
Tanweer Khan
House Officer, Kabir Medical College, Gandhara University Peshawar, Pakistan
Uzma Mahmood
House Officer, Khyber Teaching Hospital, Peshawar Pakistan
