Perbedaan Pola Polimorfisme Gen Reduced Folate Carrier1 (RFC1) A80G pada Kontrol dan Penderita Sumbing Bibir dengan Atau Tanpa Celah Langitan Non Sindrom

Abstract

Sumbing bibir merupakan kelainan kongenital no 2 tersering di Indonesia dengan prevalensi sumbing bibir pada anak umur 24-59 bulan adalah 0,8 per 1000 anak. Etiologi nya masih belum diketahui, beberapa penelitian telah menyelidiki adanya keterlibatan faktor genetik. Penelitian ini bertujuan untuk mengidentifikasi keterlibatan polimorfisme reduce folat carier 1 A80G dengan non-syndromic cleft lip and palate (NSCLP) di populasi Sumatera Utara.Pada penelitian kasus control ini direkrut 62 subjek dengan NSCLP dan 61 orang control,dilakukan isolasi DNA dan proses genotyping menggunakan PCR-RFLP .Pada penelitian ini distribusi variant genotype dan alel antara kasus dan kontrol tidak berbeda secara significant (p=0,271,p=809). Pada subgroup analisis, polimorfisme RFC1 A80G menunjukkan hubungan yang signifikan pada kelompok CLO+CPO.Penelitian kami memperoleh data bahwa variant RFC1 A80G ada hubungan dengan NSCLP di populasi Sumatera Utara.

Cleft lip is the second most frequent congenital anomalies in Indonesia after Down Syndrome with the prevalence among children aged 24-59 months. The etiology of non syndromic cleft lip with or without cleft palate has not yet been defined. Some studies have investigated the involvement of genetic and environmental factors. Some genes involved in the folate metabolism have been recently examined in order to discover the genetic factors in the cleft lip etiology. This research intends to identify the involvement of polymorphism in the Reduced Folate Carrier 1 A80G with non syndromic cleft lip and palate (NSCLP) in the population of Sumatera Utara.In this case control study, 62 patients NSCLP and 61 controls underwent DNA isolation and genotyping process using Polymerase Chain Reaction – Restriction Fragment Length Polymorphism (PCR-RFLP).The distribution of genotype and allele variants between the case and control were not significantly different (p=0.271, p=0.809). Ini the subgroup analysis, the polymorphism of RFC1 A80G showed a significant relationship in the group of CLO+CPO.This research obtained the data that the RFC1 A80G mutant variant had a relationship with NSCLP in the population of Sumatera Utara.