OBJECTIVE To determine BRCA1 status in breast carcinoma patients of Pakistani origin. STUDY DESIGN Observational study. PLACE AND DURATION OF STUDY The Oncology Clinics of the Aga Khan University Hospital, Karachi, between May 2005 and December 2009. METHODOLOGY Fifty three breast cancer patients based on clinical and laboratory diagnosis were recruited for this study. Moderate family his...

background: trichomonas vaginalis is the agent of urogenital tract infection that causes human trichomoniasis with some serious health complications. more understanding about genetic features of the parasite can be helpful in the study of the pathogenesis, drug susceptibility and epidemiology of the infection. for this end,we conducted analysis of the actin gene of t. vaginalis by applying the ...

A series of 152 human bladder tumors, 14 bladder tumor cell lines, and 1 immortal urothelial cell line were examined by single-strand conformation polymorphism (SSCP) and designed restriction fragment.length polymorphism analyses for mutations in exons 1 and 2 of the H-ras gene. Nine tumors (6%) contained mutations. There was complete concordance between SSCP and restriction fragment length pol...

Hearing loss (HL) is the most frequent sensory defect affecting 1 in 1000 neonates. This can occur due to genetic or environmental causes or both. The genetic causes are very heterogenous and over 100 loci have been identified to cause autosomal recessive non - syndromic hearing loss (ARNSHL). The aim of this study was to determine the contribution of the LRTOMT gene mutations in causing ARNSHL...

This study detects and defines the patterns of p53 gene mutations in breast cancers. We analyse p53 gene mutations through comparing the results of single-strand-conformation-polymorphism (SSCP) and immunohistochemistry (IHC), and we try to define the differences between the results of SSCP and IHC. Twenty-seven fresh primary breast cancer tissues and eight normal breast tissues were studied. T...

Background: KDM3A is a key epigenetic regulator that is expressed in the testis and is required for packaging and condensation of sperm chromatin. To this point, the association of the KDM3A gene and infertility has not been studied in human. The aim of this study was to screen any new mutation in KDM3A gene to explore more details of human male infertility. Methods: In this work, 150 infertile...

Among fluoroquinolone-resistant Mycobacterium tuberculosis (FQr-MTB) isolates, mutation at positions 90, 91, and 94 in gyrA gene and at positions 495, 516, and 533 in gyrB gene have been frequently reported. In this study, 35 isolates of FQr-MTB were collected from Siriraj Hospital and Chest Disease Institute. The quinolone-resistance-determining regions (QRDR) of gyrA and gyrB genes in all 35 ...

DNA polymorphism within diacylglycerol transferase 2 (DGAT2) / monoacyl glycerol transferases 2 (MOGAT2), leptin and butyrophilin genes were analysed using PCR-SSCP in Murrah buffalo. The single strand conformation polymorphism (SSCP) analysis of amplified gene fragment in exon 5 of MOGAT2, exon 3 of leptin and intron 1 of butyrophilin gene revealed different patterns. A, B and C showed the fol...

BACKGROUND Trichomonas vaginalis is the agent of urogenital tract infection that causes human trichomoniasis with some serious health complications. More understanding about genetic features of the parasite can be helpful in the study of the pathogenesis, drug susceptibility and epidemiology of the infection. For this end, we conducted analysis of the actin gene of T. vaginalis by applying the ...