Frequency and types of deletional α+in Northern Sardinia
✍ Scribed by Anna Rienzo; Luciano Felicetti; Andrea Novelletto; Gavino Forteleoni; Bruno Colombo
- Publisher
- Springer
- Year
- 1985
- Tongue
- English
- Weight
- 278 KB
- Volume
- 71
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
✦ Synopsis
We determined by restriction mapping the frequency of the -alpha 3.7 determinant in a random sample of 48 adults in Northern Sardinia. We found a frequency of 0.18 +/- 0.04 and demonstrated that only type I crossover as determined by Apa I digestion (Higgs et al. 1984) is present. Moreover, we showed that this haplotype is not associated with an Rsa I polymorphism 5' to the alpha 2-globin gene. These data support the hypothesis of a unique origin of this deletion in Sardinia.
📜 SIMILAR VOLUMES
## Abstract Thalassemias are a group of genetic hemolytic disorders with varying phenotypes. In this study, the frequency of α globin gene deletions was studied in the β‐thalassemia trait, the mildest form of the disorder. Eleven out of 33 (33%) individuals were positive for α^−3.7 kb^ deletions. N
Using a polymerase chain reaction (PCR) method, we tested for the hepatic mitochondrial DNA (mtDNA) deletion in 40 hepatic tumors (28 hepatocellular carcinomas [HCCs], 9 other malignant tumors, and 3 benign tumors) and in the livers of 71 patients, including 16 pediatric patients with end-stage live
Two hundred and twelve papillary and 40 follicular carcinomas were found in 3002 thyroid glands examined from 1931 to 1975 in four Laboratories of Pathology that fairly cover northern Portugal. There was a striking preponderance of women both in papillary (fema1e:male = 6.9:l) and follicular carcino
Alagille syndrome is an autosomal dominant disorder comprising cholestasis (associated with intrahepatic bile duct paucity), characteristic facial appearance, and cardiac, ocular and skeletal defects. Multiple patients have been reported with deletions or translocation involving 20p11.23-p12, provid