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
Chinese Journal of Medical Genetics
; (6): 684-687, 2017.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-344196
Responsible library:
WPRO
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>
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Reagent Kits, Diagnostic
/
Beta-Thalassemia
/
Diagnosis
/
Diagnostic Errors
/
Beta-Globins
/
Genetics
/
Heterozygote
/
Mutation
Type of study:
Controlled clinical trial
/
Diagnostic study
Limits:
Female
/
Humans
/
Male
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2017
Document type:
Article