Abstract
To provide prenatal diagnosis for two couples who respectively carried heterozygous CD41-42 (-TCTT) and CD43 (G>T) mutations of the beta hemoglobin gene. The mutations were simultaneously detected with reverse dot blot (two diagnostic kits), multi-color melting curve analysis and sequencing analysis. The fetus of family 1 was shown to be heterozygous for CD43 (G>T) by the three methods, while the fetus of family 2 was shown to be double heterozygous for CD41-42 (-TCTT) and CD43 (G>T) by multi-color melting curve analysis and sequencing analysis. The two diagnostic kits yielded different results by reverse dot blot, one as double heterozygous for CD41-42 (-TCTT) and CD43 (G>T), and another as homozygous for CD41-42 (-TCTT). For prenatal diagnosis of couples carrying mutations of beta hemoglobin gene such as CD41-42 (-TCTT) and CD43 (G>T), other methods such as Sanger sequencing should be used in order to avoid misdiagnosis.
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Schedule a callMore From: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
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