Targeting of GH gene at the proximal end for identification of markers for breast cancer among Pakistani women

Chromosome 17 is one of the 23 pairs of chromosomes in humans. spans more than 81 million base pairs) and represents between 2.5 and 3 % of the total dna in cells. chromosome 17 likely contains between 1,200 and 1,500 genes. it also contains gh1 gene which was targeted for mutations related to breast cancer at the promoter region in the proximal end of the gene. dna was isolated from blood of normal female subjects and proximal end of gh1 gene was amplified by pcr,using a set of primers. the amplified dna was sequenced and sequences of the amplified products showed variations in the 5′ flanking region of gh-n (accession no. m13438.1). in the promoter region two changes were noticed one was change of a to g at position -6 and the second was change of a to t at position -1. one variation in signal peptide where g replaces a was also found in all four samples but this is a silent mutation as it has no effect on amino acid sequence. it was noticed that there were 6 mutations found in local population related to increase or decrease risk of breast cancer. this is the first study aimed at the identification of genetic markers for link to breast carcinoma risk in pakistani woman. copyright 2013 zoological society of pakistan.