SINGLE NUCLEOTIDE POL YMORPHISMS OF EXON 1 C330T/rs. 34165410 MSXl GENE ASSOCIATED WITH NON SYNDROMIC CLEFT PALATE ONLY (NS CPO) AMONG DEUTEROMALA YAN SUBRACE IN INDONESIA

• Main Author: , Saskia L. Nasroen
• Format: Article NonPeerReviewed
• Published: [Yogyakarta] : Fak.Kedokteran Gigi Universitas Gadjah Mada 2012
• Online Access: https://repository.ugm.ac.id/96072/; http://repository.ugm.ac.id/digitasi/index.php?module=cari_hasil_full&idbuku=3890
• Institution: Universitas Gadjah Mada

<p>Non syndromic cleft palate only (NS CPO) is one of the most common congenital malformations that affect between 1 in 1000-2500 live births worldwide. Nonsyndromic cleft palate is considered to be a genetically complex, multifactorial disease. Drosophila muscle segment homeobox homolog-l (MSX1) gene has been proposed as one of strong candidate genes associated with NS CPO. The patterns of MSX1 gene mutation may vary according to race and geographical region. The majority of such mutations have been found in exon 1 of the MSX1 gene and a significant association has been found between C330T and NS CPO in Asian population. The objective of this study was to detect and analyze single nucleotide polymorphisms (SNPs) of MSX1 gene in C330T/rs. 34165410 exon 1 region as the risk factor associated with development of NS CPO in Deuteromalayan sub race among Indonesian population.<br /> This study was cross sectional design using samples ftom 22 NS CPO subjects and 43 control subjects. DNA was extracted ftom venous blood and the MSX1 gene was amplified using polymerase chain reaction (PCR) technique, then DNA sequencing was performed on dideoxy Sanger method.<br /> The study results indicated that Single SNPs was identified at C330T in exon 1 MSX1 gene. In C330T, it was found that the ftequency of T mutant allele was 12,5% in NS CPO subjects and 87.5% in control subjects. This difference wasn't significant statistically (X2=3,147