Article
Direct genotyping and prenatal diagnosis of beta-thalassemia in Chinese by polymerase chain reaction mediated restriction fragment length polymorphism method.
Clinical biochemistry - 1 Dec 1993
Xu X M, Ma W F, Song L L, Xu Q, Zhang J Z
Abstract excerpt
The molecular basis of beta-thalassemia is predominantly point mutations in the beta-globin gene. Frameshift 41-42 (-CTTT), IVS-2 position 654 (C-->T) mutation, nonsense codon 17 (A-->T), TATA box position -28 (A-->G) mutation and frameshift 71-72 (+A) account for more than 95% of beta-thalassemia alleles in the population of South China. We have developed a polymerase chain reaction (PCR)-mediated restriction...
Topics
- Adult
- Alleles
- Asian People
- Base Sequence
- Family
- Female
- Fetal Diseases
- Genotype
- Humans
- Male
- Molecular Sequence Data
- Mutation