Frequency and types of deletional alpha+-thalassemia in northern Sardinia.
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.
D000328:Adult; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004262:DNA Restriction Enzymes; D004587:Electrophoresis, Agar Gel; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D013789:Thalassemia / Q000235:genetics*
D005914:Globins; D004262:DNA Restriction Enzymes