ANALISIS POLIMORFISME V89L GEN SRD5A2 DAN MIKRODELESI GEN AZF DAN SRY PADA PASIEN HIPOSPADIA ISOLATED

Abstract

Background : Hypospadia is one of the most common urethral malformation in male babies. It happens due to developmental failure of external genitalia formation. Polymorphism of V89L of SRD5A2 gene is associated with the increasing risk of hypospadia. Hypospadia patients have a high risk of infertility. One of the caused is microdeletion of AZF and SRY gene. This microdeletion data is important as a guide in genetic counseling. The aim of this study is to know V89L polymorphism in SRD5A2 gene and microdeletion of AZF and SRY in hypospadia patients. Method : DNA of 46 samples (23 hypospadia samples and 23 normal males) were analysed by using PCR – RFLP to detect V89L polymorphisms in nucleotide 265 of exon 1 in SRD5A2 gene. Sequencing was done as confirmation. Microdeletion of AZF and SRY data in 23 hypospadia samples were done by using multiplex PCR method in previous study. Result : Prevalence ratio of mutant allel (allel C) vs WT (allel G) was 1.0; 95% CI: 0.268-3.729, p value = 1.0 (not significant). C allel frequency was slightly higher than G allel in all samples, 0,51 and 0,49,respectively. There were 8,7% (n=2) of 23 samples who have AZFa partial microdeletion with phenotype penile and penoscrotal, respectively. Conclusion : It could not be concluded whether C allel in V89L polymorphism of SRD5A2 gene was associated with increasing risk of hypospadia due to small sample size. The finding of partial microdeletion of AZFa became an important guide in genetic counseling of hypospadia patients. KEYWORD :Hypospadia , Polymorphism, SRD5A2 , V89L, Microdeletion, AZF, SRY.