Gene polymorphysm

There are significant differences among patients treated with warfarin in the dosage volumes necessary to reach an optimum therapeutic effect. Apart from the external influences (interactions with drugs and food), genetic predispositions play an important role. Polymorphysms of the P 450 2C9 cytochrome bear upon the speed ofbreaking down S-warfarin, polymorfysms VKORC1 bear on the volume and quality of epoxide reductase--an enzyme whose blockade is the crux of the mechanism how cumarin anticoagulants act. These two genes are responsible for at least 50% of the warfarin effect variability...

PURPOSE: To report a large deletion that encompasses more than 90% of PRPF31 gene and two other neighboring genes in their entirety in an adRP pedigree that appears to show only the typical clinical features of retinitis pigmentosa. METHODS: To identify PRPF31 mutation in a dominant RP family (ADRP2) previously linked to the RP11 locus, the 14 exons of PRPF31 were screened for mutations by direct sequencing. To investigate the possibility of a large deletion, microsatellite markers near PRPF31 gene were analyzed by non-denaturing PAGE...

Polymorphysms of the three genes encoding phase 1 (CYP1A1, mEPH1, and CYP2E2) and the three genes encoding phase 2 (NAT2, GSTM1, and GSTT1) xenobiotic detoxication enzymes were typed by use of PCR in 74 patients with extragenital endometriosis. Distribution of the CYP1A1, mEPHX1, CYP2E1, NAT2, and GSTM1 polymorphic alleles in the patient group corresponded to that in the control group. At the same time, functionally defective genotypes GSTM1 0/0, NAT2 S/S; GSTM1 0/0, GSTT1 0/0; and GSTT1 0/0, NAT2 S/S were three, four and eight times more frequent among the patients than in healthy individuals...

A 30-year-old woman was admitted to our hospital for investigation of an abnormal shadow in the right pulmonary hilus on a chest X-ray film. A percutaneous needle biopsy was performed, which revealed pulmonary blastoma. A right upper lobectomy was performed and the pathological stage was confirmed to be IIIa (T3N0M0). An analysis of preoperative cytological specimens showed that epithelial tumor cells with thin cytoplasm were either tubular or papillary, while some mesenchymal tumor cells with elliptic and spindle-shaped nuclei were also found in the necrotic background...

To examine whether malignant mesothelioma due to asbestos has genetic alterations in the Ha- and Ki-ras oncogenes or in the p53 suppressor gene, we analyzed the point mutations of these genes in paraffin-embedded autopsy samples of the primary tumors of malignant mesothelioma in seven asbestos patients who died from malignant mesothelioma. The genetic analysis was conducted by the polymerase chain reaction-single strand comformation polymorphysms (PCR-SSCP) method in all patients, and through the sequencing of deoxyribonucleic acid (DNA) bases in one patient...

To study the association of renin gene polymorphism with essential hypertension in the Chinese population, 86 hypertensive and 107 normotensive subjects were enrolled from an epidemiologic survey. Leukocyte DNA was extracted and digested with Hind III and Bgl I restriction enzymes. Southern hybridization was done with digoxigenin-incorporated renin gene probes generated by polymerase chain reaction. The restriction fragments were detected by anti-digoxigenin antibody and enzyme methods. Two Hind III polymorphysms of the renin gene (8...

The purine salvage enzyme hypoxanthine guanine phosphoribosyl transferase (HPRT) catalyzes the transfer of phosphoribose from PRPP to the 9-position of hypoxanthine or guanine, yielding IMP or GMP, respectively. HPRT is a 217-amino acid protein and is expressed in all tissues at low levels. High levels are present in brain, specially in the basal ganglia. HPRT is encoded by a single gene on the X chromosome (Xq26), which contains nine exons, dispersed over 40 kb of genomic DNA. mRNA is about 1.6 kb in length and contains an open reading frame of 654 nucleotides...