Study on genetic diagnosis and prenatal diagnosis of alpha-thalassemia / 中华血液学杂志
Chinese Journal of Hematology
;
(12): 103-105, 2005.
Article
in Chinese
| WPRIM
| ID: wpr-229896
ABSTRACT
<p><b>OBJECTIVE</b>To develop a single-tube multiplex polymerase chain reaction (mPCR) technique to detect three common deletional alpha-thalassemias (alpha-Thal) in Chinese, and to perform genetic diagnosis and prenatal diagnosis for an alpha-Thal family from Hebei province, China.</p><p><b>METHODS</b>Fourty-two blood samples including samples from one alpha-Thal family from Hebei province were assayed. The mPCR containing 7 primers, gel electrophoresis and DNA sequencing were used for the genetic diagnosis and prenatal diagnosis.</p><p><b>RESULTS</b>The gene types of the fourty-two DNA samples analyzed by the mPCR-gel electrophoresis technique were in accordance with the results by Southern blot and three separate PCR techniques. A HbH child and a fetus of the alpha-Thal family were diagnosed as--(SEA)/alpha(cs)alpha and alpha alpha/alpha alpha respectively by using the mPCR and DNA sequencing. The result of postnatal analysis of the cord blood was consistent with the prenatal result (alpha alpha/alpha alpha).</p><p><b>CONCLUSION</b>The developed mPCR technique can be used for genetic diagnosis and prenatal diagnosis of the 3 deletional alpha-Thal in Chinese.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Genetic Testing
/
Polymerase Chain Reaction
/
Family Health
/
Sequence Analysis, DNA
/
Point Mutation
/
Gene Deletion
/
Alpha-Thalassemia
/
Molecular Diagnostic Techniques
/
Diagnosis
Type of study:
Diagnostic study
Limits:
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Hematology
Year:
2005
Type:
Article
Similar
MEDLINE
...
LILACS
LIS