THE GENE ENCODING SEX DETERMINING REGION Y (SRY) IN FOUR ENCODING SEX DETERMINING REGION Y (SRY) IN FOUR

Abstract

The Y chromosome - specific gene SRY is one of the key genes involved in human sex determination. The SR Y gene encodes a testis-specific transcription factor that plays a key role in sexual differentiation and development in males and is located on distal region of short arm of the Y chromosome (YplI.3). Mutations in SRY gene result in XY sex reversal and pure gonadal dysgenesis. Total genomic DNA was extracted and purified from four blood samples (ADT3, MT70, MT87, and MT95) belonging to KinhlViet, and Muong Ethnic minorities. The CDS region of the SRY gene was amplified using specific primers SRYF and SRYR. The PCR products of about 0.85 kb, including the fragment of 3' and 5' flanking sequence, were ligated to the pCR 2.1 TA vector, and then transformed into E. coli cells. The purified recombinant plasmids were used for sequencing of the inserts. Four polymorphisms in the coding region of the SR Y gene were detected in 3 samples, ADT3, MT70 and MT87, which are base substitution polymorph isms (T34C in ADT3, G[7IA and G256A in MT87, and C236T in MT70, respectively). Three of these polymorphisms (T34C, G 171A, and G256A) lead to the replacement of the amino acid residues (FI2L, A79V, and R86Q, respectively). These are the first sequences of the SRY gene of Vietnamese individuals from Vietnam. The sequences have been deposited in EMBLIGenBank with the Accession Numbers AM88475[, AM8847450, AM884748, and AM884746, respectively.