Genetic Analysis, Prenatal Diagnosis and Preimplantation Genetic Diagnosis of Taiwanese Deletion β-Thalassemia / 中国实验血液学杂志
Journal of Experimental Hematology
; (6): 1585-1591, 2019.
Article
ي Zh
| WPRIM
| ID: wpr-775681
المكتبة المسؤولة:
WPRO
ABSTRACT
OBJECTIVE@#To perform genetic analysis, prenatal diagnosis and preimplantation genetic diagnosis (PGD) in a family with a rare deletional β- thalassemia.@*METHODS@#Hematological parameters of the peripheral blood collected from all the family members were analyzed by whole blood cell analysis and capillary zone electrophoresis (CZE). Polymerase chain reaction-reverse dot blot (PCR-RDB) was used to identify 17 common β- thalassemia gene mutations, the multiplex ligation-dependent probe amplification (MLPA) and gap-polymerase chain reaction (gap-PCR) were used to identify β- globin gene cluster deletions. Chorionic villus sample or umbilical cord blood was obtained for prenatal diagnosis. Oligo-cells from blastocyst biopsy were collected for preimplantation genetic diagnosis by whole genome amplification and next generation sequencing.@*RESULTS@#The proband was a carrier of Taiwanese deletion β- thalassemia, two fetuses were both thalassemia majors. The PGD results showed that 6 of 11 tested embryos could be choose for transplantation.@*CONCLUSION@#The Taiwanese deletion is a rare type deletion of β- globin gene cluster, and it can lead to thalassemia intermedia or thalassemia major when compounded with other β- globin gene mutation. PGD is another choice for thalassemia couples.
النص الكامل:
1
الفهرس:
WPRIM
الموضوع الرئيسي:
Prenatal Diagnosis
/
Genetic Testing
/
Beta-Thalassemia
/
Alpha-Thalassemia
/
Preimplantation Diagnosis
/
Genetics
نوع الدراسة:
Diagnostic_studies
المحددات:
Female
/
Humans
/
Pregnancy
اللغة:
Zh
مجلة:
Journal of Experimental Hematology
السنة:
2019
نوع:
Article