Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis.
نویسندگان
چکیده
منابع مشابه
Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis.
Wilson's disease, a rare autosomal recessive disorder, has been recently mapped to the long arm of chromosome 13 (q14.1). In this study, we carried out linkage analysis between three chromosome 13 DNA markers, D13S1, D13S10, D13S2, the locus for the red cell enzyme esterase D (ESD), and the Wilson's disease locus (WND) in 17 Wilson's disease families of Italian descent, mostly from Sardinia. We...
متن کاملGenomic Organization and Restriction Fragment Length Polymorphism Analysis for Prenatal Diagnosis in Chronic Granulomatous Disease
The genetic defect in the p67Pk-deficient form of chronic granulomatous disease (CGD) follows an autosomal recessive pattern of inheritance. When genomic DNA from normal individuals is digested with Hindlll and probed with p67p"''x cDNA an allelic restriction fragment length polymorphism (RFLP) of 4.0 kb or 2.3 kb is detected. We cloned and characterized the p67Pk gene using the cDNA and sequen...
متن کاملRestriction Fragment Length Polymorphism (RFLP)
Restriction Fragment Length Polymorphism (RFLP) is a technique in which organisms may be differentiated by analysis of patterns derived from cleavage of their DNA. If two organisms differ in the distance between sites of cleavage of a particular restriction endonuclease, the length of the fragments produced will differ when the DNA is digested with a restriction enzyme. The similarity of the pa...
متن کاملRapid diagnosis of adenoviral conjunctivitis by PCR and restriction fragment length polymorphism analysis.
To detect and identify adenovirus (Ad), we used a combination of PCR and restriction fragment length polymorphism (RFLP) analysis. Nested PCR with two primer sets that hybridize to the conserved region for hexon proteins of 14 prototypes of Ad, Ad serotype 1 (Ad1) to Ad8, -11, -14, -19, -37, -40, and -41, amplified a 956-bp DNA fragment. The amplified fragments from the 14 prototypes were compl...
متن کاملDirect early identification of Mycobacterium tuberculosis by PCR-restriction fragment length polymorphism analysis from clinical samples.
We attempted to apply the PCR-restriction fragment length polymorphism (PCR-RFLP) technique for the early detection and identification of Mycobacterium tuberculosis directly from clinical samples. PCR-RFLP of hsp65 was applied to the DNA extracted directly from sputum samples (n = 226) collected from 226 patients. We could detect and identify M. tuberculosis in 84.5% of the acid-fast bacillus (...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1989
ISSN: 1468-6244
DOI: 10.1136/jmg.26.2.78