A novel double heterozygote of HBB c.219T>A;220G>T: gene diagnosis and pedigree analysis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 538-541, 2017.
Article
in Chinese
| WPRIM
| ID: wpr-335088
ABSTRACT
<p><b>OBJECTIVE</b>To identify a novel hemoglobinopathy applied by direct sequencing and clone sequencing.</p><p><b>METHODS</b>EDTA anticoagulated blood of proband and his parents were analyzed by hematology analyzers and Capillarys hemoglobin electrophoresis (CE). Then thalassemia genetypes were screened by gap-PCR and reverse dot blot (RDB). Proband was suspected with abnormal hemoglobin combine alpha beta compound thalassemia. The mutation of beta-globin was identified by direct sequencing and clone sequencing.</p><p><b>RESULTS</b>Hb analysis showed that probands Hb A2 variant was eluted in Z (C) zone and his father's in Z (A2) zone on CE,and proband's mother elevated HbA2 of 4.6%. Screened by RDB, the proband was CD71-72(+A) homozygote and showed the mismatch with his parents. Through direct sequencing and clone sequencing, we deduced that our proband inherited the mutations of HBB c.[219T>A;220G>T] from his father and inherited the Southeast-Asian deletion and HBB c.216-217insA from his mother.</p><p><b>CONCLUSION</b>A novel double heterozygote of HBB c.[219T>A; 220G>T] was identified in south China. This mutation enriches the beta-thalassemia gene mutation spectrum in Chinese population.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Thalassemia
/
Hemoglobins
/
Hemoglobins, Abnormal
/
Asian People
/
Beta-Globins
/
Genetics
/
Heterozygote
/
Mutation
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Child, preschool
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2017
Type:
Article
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