ISSN:
1435-232X
Keywords:
RFLP
;
BamH1
;
prenatal diagnosis
;
β-thalassemia
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Summary The distribution of restriction fragment length polymorphism (RFLP) at theBamH1 site of the β-globin gene was investigated in the Chinese, Indian, and Malay race in Singapore. The sample comprised of 183 normal individuals and 35 β-thalassemia carriers in which 13 were couples with at least one β-major child. The results from this study indicate thatBamH1 polymorphism will be informative in 22% of pregnancies at risk for β-thalassemia major in Chinese, 19% in Malays and 7% in Indians. In prenatal diagnosis usingBamH1 polymorphism for one β-major affected family, the fetus was diagnosed to be normal or β-carrier. The validity ofBamH1 polymorphism in the exclusion of β-thalassemia major was subsequently confirmed at birth by globin chain biosynthesis.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01874141