ABSTRACT
Familial Mediterranean fever [FMF] is an autosomal recessive disease which is characterized by recurrent fever and inflammation of serous membranes. A Chilean FMF patient was investigated for MEFV mutations. After DNA extraction, exons 3, 5, 10 and 30UTR region of MEFV gene were analyzed by DNA sequencing while E148Q and R202Q mutations of exon 2 were detected by RFLP. A novel missense mutation, A511V [c.1532C>T, p.Ala511Val], was found in a heterozygous state in exon 5 of MEFV gene. Also, R202Q [c.605G>A, p.Arg202Gln] was detected in heterozygous state. R202Q was of clinical value in the diagnosis of FMF when combined with a disease causing mutation. In this patient, A511V was detected in compound heterozygous state with R202Q and this association may play an important role in FMF
Subject(s)
Humans , Genes, Suppressor , DNA/analysis , Polymerase Chain Reaction/methodsABSTRACT
Neural tube defects [NTDs] comprise a group of congenital malformations that includes spina bifida, anencephaly, meningomyelocele and encephalocele. Reports have implicated zinc deficiency as one of the causative factors of NTDs. Both environmental and genetic factors are involved in the etiology of NTDs. Inadequate folate intake and nutritional deficiency are important environmental risk factors. The aim of this study was to determine the relation of a zinc related gene ZRT and IRT like protein 14 [ZIP14] and neural tube defects in Turkish patients. The case control study included seventy Turkish mothers who gave birth to NTD infants. Two hundred and thirty-nine healthy controls were consecutively selected without any congenital defects or familial NTD history. Following DNA extraction, PCR, SSCP and DNA sequencing analysis of exons of the ZIP14 gene were performed. Our data revealed that no relation of neural tube defects and ZIP14 was detected in Turkish NTD patients. Zinc deficiency have been reported as a risk factor for Turkish population and other possible zinc related gene defects may have importance