Investigation of QF-PCR application for rapid prenatal diagnosis of chromosomal aneuploidies in Iranian population

G-Banding followed by standard chromosome analysis is routinely used for prenatal detection of chromosomal abnormalities. In recent years, molecular cytogenetic techniques have been developed for rapid diagnosis of chromosomal abnormalities. Among these methods Quantitative Florescence Polymerase Chain Reaction [QF-PCR] has been widely used for this purpose. Heterozygosity of short tandem repeat [STR] markers which leads to informativity is the most critical requirement for feasibility of QF-PCR. In this study we analyzed several short tandem repeats on chromosomes 13, 18, 21, X and Y on amniotic fluid samples obtained from PND candidates to diagnose conditions such as Down, Edward and Patau syndromes and also numerical sex chromosome abnormalities such as Klinefelter and Turner syndromes. Most of the analyzed STRs had acceptable heterozygosity [66.3-94.7] to be used in QF-PCR based prenatal diagnosis. Moreover, results obtained from both methods [standard karyotype and QF-PCR] for all samples were in accordance with each other. In case of using appropriate STR markers, and in certain clinical indications, QF-PCR could be used as useful technique for prenatal diagnosis even in consanguine populations such as Iranians

[Frequency of TNFalpha-244GA, TNFalpha-308GA and TNFalpha-238GA polymorphisms in healthy and malaria infected patients of Kerman and Hormozgan provinces]

Tumor necrosis factor-alpha [TNF alpha] is one of the key cytokines that affects on pathology of microbial infections. It is suggested that genetic susceptibility to severe form of malaria is associated with TNF alpha promoter polymorphisms. The aim of present study was to investigate frequency of -308 GaA, -244 GaA and -238 GaA polymorphism in 174 samples of Hormozgan and Kerman provinces. In case- control study, we investigated the prevalence of TNF alpha-244 GaA, TNFalpha-308GaA and TNFalpha-238 GaA polymorphism in 174 [154 healthy and 20 patients] individuals from Kerman and Hormozgan provinces of Iran. DNA extraction performed, and then PCR-RFLP was used to detect polymorphisms in -308, -244 and -238 loci. In these three regions, 82.2% of healthy samples showed GG genotype, 14.26% AG and 0.19% AA. All samples of patients showed GG genotype in these three regions. It seems that evolutionary effect of malaria causes increased genotypes which related with protection against malaria or reduction of risk of cerebral malaria and death, although, there was no association between frequency of these genotypes and protection against malaria