CLINICAL RESEARCH IN GENE SCREENING OF Β–
HALASSEMIA
Wang FL, Sun Bing
2nd Hospital of
WCUMS, Chengdu, Sichuan, China
Objective: To
explore the value of gene screening of β–thalassemia
in clinic and investigate the proportion of popular mutations in Sichuan.
Method: We
detected the commenest five types of mutation in 89 cases (29 lineages)
including 15 prenatal screening with multiplex allele specific
amplification (MASPCR).
Results: 1.
The abnormal chromosomes are 99.16 cases of double mutation and 1 case of
triplex mutation has been found. The positive ratio of diagnosis is 85.9%.
2. The proportion of the mutations in Sichuan we found are: CD17 (A→T) 39.4%, CD41-42
(-4bp) 26.3%, IVS-II 654 (C→T
) 17.1%, nt-28 (A→G)
2.0%, nt-29 (A→G)1.0%.
Conclusion: The
five mutations detected by MASPCR are confirmed by the DNA sequencing,
partially by PCR/ASO and reverse dot blot analysis. The method could be
used in prenatal screening for the fetus at risk. The investigation implies
the clue that the higher propotion of IVS-II 654 in Sichuan maybe related
to the gene flow from Hubei province.