In August 1985 we instituted a carrier and prenatal testing service for Duchenne muscular dystrophy (DMD) using direct DNA analysis. The experience over the first nine months is described. We have analysed samples for RFLPs from 154 people including 53 women at risk of being DMD carriers from 37 families. We used the probes pERT87.8 (BstXI and TaqI polymorphisms), 87-15 (TaqI polymorphism), and...

We performed ameta-analysis of the association of transforming growth factor α gene (TGFA) polymorphisms with the risk of cleft lip with or without cleft palate (CL/P) or cleft palate (CP). In total, data from 29 studies were pooled for the following 3 polymorphisms: TGFA/TaqI, TGFA/BamHI, and TGFA/RasI in the TGFA gene. A fixed-effects or random-effects model was used to calculate the pooled o...

Primary biliary cirrhosis (PBC) is a chronic cholestatic liver condition characterized by the immune-mediated damage of the intrahepatic bile ducts. Polymorphisms of vitamin D receptor (VDR) are considered to contribute to its pathogenesis however their incidence varies in different populations and their potential association with the course of the disease has not been studied. In this paper we...

OBJECTIVE Vitamin D receptor (VDR) gene polymorphisms and bone metabolic markers were investigated as potential genetic markers for osteoporosis in postmenopausal Turkish women. The relationship between their VDR gene polymorphisms and bone states was determined. MATERIALS AND METHODS Restriction fragment length polymorphisms at the VDR gene locus (i.e., for BsmI, ApaI, and TaqI) was investig...

BACKGROUND/AIMS Functional dyspepsia (FD) is a common gastrointestinal disease, for which domperidone is one of the most commonly used drugs. This study aimed to investigate the potential causes of the varying therapeutic effects of domperidone among FD patients. MATERIALS AND METHODS The effects of domperidone therapy in patients with FD were evaluated using a clinical symptom score combined...

The relationship between vitamin D receptor (VDR) intragenic polymorphisms FokI, BsmI, ApaI and TaqI and bone mineral density (BMD) or biochemical markers of bone remodeling were investigated in 114 Czech postmenopausal women, on the average 62.5+/-8.9 years of age. Restriction fragment length polymorphisms in the VDR gene were assessed by PCR amplification and digestion with restriction enzyme...

Abstract Introduction Crohn’s disease (CD) and ulcerative colitis (UC) are chronic inflammatory conditions of the gastrointestinal tract. Studies have shown that polymorphisms vitamin D receptor (VDR) gene may help elucidate pathogenesis CD. Objectives To analyze role VDR (ApaI, BsmI, FokI, TaqI) in development Methods The present study is a systematic review with meta-analysis. total 50 articl...

Source/Description of Clone: Clone pALP13-8 is a single copy 750 bp EcoRV fragment, 0.9 kb 3' of exon 4, subcloned from a 6.6 kb BamHI fragment containing the complete human c-fos oncogene (FOS) (1). Polymorphisms: are detected with TaqI (A alleles) and BstNI (B alleles) (see Figure). A) TaqI: Presence of a 1.6 kb fragment or its allele, a 0.6 kb fragment. B) BstNI: Presence of an 0.85 kb fragm...

BACKGROUND Polymorphisms in the vitamin D receptor (VDR) gene have been studied in immune-related disorders either as independent contributors or in combination with vitamin D concentration. Vitamin D and VDR have been independently linked to asthma susceptibility. We investigated whether VDR variants were associated independently or in relation to vitamin D levels with asthma in Cypriot adoles...