Analysis of a mistake occurring during prenatal diagnosis of two couples respectively carrying CD41-42 (-TCTT) and CD43(G>T) mutations of the beta hemoglobin gene / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To provide prenatal diagnosis for two couples who respectively carried heterozygous CD41-42 (-TCTT) and CD43 (G>T) mutations of the beta hemoglobin gene.</p><p><b>METHODS</b>The mutations were simultaneously detected with reverse dot blot (two diagnostic kits), multi-color melting curve analysis and sequencing analysis.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSION</b>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.</p>