PCR Conditions: The PCR reaction is carried out in a total volume of 50 /*1 containing approximately 250 ng DNA, 2 units Taq DNA polymerase, 50 pmol of each primer, 200 /M dNTP's, 10 mM Tris-HCl pH 8.3, 50 mM KC1, 1.5 mM MgCl2, 0.001% gelatin. The amplification is performed for 30 cycles with an annealing temperature of 60°C. The amplified product is digested with TaqI and the DNA fragments are...

late-onset alzheimer's disease (ad), a genetically heterogeneous neurodegenerative disorder, is the most common form of dementia in people over 65 years old. the role of vitamin d in neuropsychiatric and neurodegenerative disorders such as ad has been supported by epidemiologic investigations and animal models, as well. we examined the association of the vitamin d receptor (vdr) gene polymorphi...

DEAR EDITOR, We visited a 75‐year‐old G7L7 rural woman with a painful vulvar lesion highly suspicious for malignancy near the introitus measuring 5 cm × 3 cm × 2 cm. The lesion was oval shaped, erythematous, and purple colored with a soft consistency and started bleeding during examination. Inguinal lymphadenopathy was absent. The patient’s past medical history was unremarkable. Biopsy was plan...

SOURCE AND DESCRIPTION : The probe that contains exon 1 to 8 was generated from pLDLR3. pLDLR3 contains a full-length LDL receptor cDNA (Yamamoto et at. , 1984) POLYMORPHISM : TaqI identifies a bi-allelic polymorphism with a band of 1.7kb and 0.6kb. FREQUENCY : Studies in 55 unrelated normal Japanese. 1.7Vb fragment 0.69 0.6kb fragment 0.31 NOT POLYMORPHISMS : In 50 individuals no polymorphisms...

Alpha 1 antitrypsin deficiency predisposes subjects to developing pulmonary emphysema and childhood liver cirrhosis. We have studied restriction fragment length polymorphisms (RFLPs) of the alpha 1 antitrypsin gene in a normal population and a group of patients with pulmonary emphysema. We have identified five RFLPs with eight restriction enzymes. The most frequent polymorphisms have been detec...

Cardiovascular disease due to atherosclerosis is the major determinant of morbidity and mortality in uremic patients. Inflammation is essential in the development of atherosclerosis and markers of inflammation, in particular C-reactive protein, predict the cardiovascular risk. Vitamin D exerts its effects through the Vitamin D Receptor, coded for by a gene showing several polymorphisms associat...

The aim of this study was to test for the possible association between vitamin D receptor (VDR) genetic variants and susceptibility to gallbladder cancer (GBC). A total of 291 GBC cases were recruited and 396 gender- and age-matched healthy volunteers were enrolled as controls. The VDR gene polymorphisms were determined in all subjects. The genotype and the allele frequencies of ApaI, BsmI, and...

Ornithine transcarbamylase (OTC) (E.C.2.1.3.3) is an X-linked hepatic enzyme in the urea cycle necessary for ammonia detoxification. Deficiency of OTC results in neonatal hyperammonemia, coma, and death in childhood. Because fibroblasts do not express OTC, prenatal diagnosis in the past has required fetal liver biopsy. Using a complementary DNA (cDNA) for OTC for Southern blot analysis of genom...

Ardinger et al. (1989) hypothesized that there might be a nonrandom association between clefting and RFLPs of candidate genes which have a role in palate formation. They reported a significant association between two RFLPs of transforming growth-factor alpha (TGFa) and clefting in a group of 80 patients with nonsyndromic cleft lip with or without cleft palate (CLIP) and in a group of 102 contro...

Control and preventive measures for gonococcal infections are based on precise epidemiological characteristics of N. gonorrhoeae isolates. In the present study the potential utility of opa-typing and ribotyping for molecular epidemiological study of consecutive gonococcal strains was determined. Sixty gonococcal isolates were subjected to ribotyping with two restriction enzymes, AvaII and HincI...