[Study on genetic diagnosis and prenatal diagnosis of alpha-thalassemia].
OBJECTIVE
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.


METHODS
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.


RESULTS
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).


CONCLUSIONS
The developed mPCR technique can be used for genetic diagnosis and prenatal diagnosis of the 3 deletional alpha-Thal in Chinese.
Liu
Jing-zhong
JZ
Center of Gene Diagnosis and Gene Therapy, Beijing Chaoyang Hospital, Capital Medical University, Beijing 100020, China.
Wang
Li-rong
LR
Huang
Li-jia
LJ
Xiao
Bai
B
Zhou
Yan
Y
D000328:Adult; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D017353:Gene Deletion; D005820:Genetic Testing; D006801:Humans; D008297:Male; D025202:Molecular Diagnostic Techniques / Q000379:methods; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017422:Sequence Analysis, DNA; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000235:genetics