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.
- Author:
Ying HAO
1
;
Weiqing WU
;
Niping JIANG
;
Xiaoxin XU
;
Shanshan YIN
;
Nan JIANG
;
Zhiyong XU
;
Jun CAI
;
Jiansheng XIE
Author Information
- Publication Type:Journal Article
- MeSH: Diagnostic Errors; Female; Heterozygote; Humans; Male; Mutation; Pregnancy; Prenatal Diagnosis; Reagent Kits, Diagnostic; beta-Globins; genetics; beta-Thalassemia; diagnosis; genetics
- From: Chinese Journal of Medical Genetics 2017;34(5):684-687
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo provide prenatal diagnosis for two couples who respectively carried heterozygous CD41-42 (-TCTT) and CD43 (G>T) mutations of the beta hemoglobin gene.
METHODSThe mutations were simultaneously detected with reverse dot blot (two diagnostic kits), multi-color melting curve analysis and sequencing analysis.
RESULTSThe 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).
CONCLUSIONFor 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.
