Genetic Analysis, Prenatal Diagnosis and Preimplantation Genetic Diagnosis of Taiwanese Deletion β-Thalassemia.
10.19746/j.cnki.issn.1009-2137.2019.05.034
- Author:
Li DU
1
;
Dan-Qing QIN
1
;
Ling LIU
1
;
Jian LU
1
;
Cui-Ze YAO
1
;
Hua-Jie HUANG
1
;
Ji-Cheng WANG
2
Author Information
1. Medical Genetics Center, Key Laboratory of Metabolic and Genetic Disease in Women and Children, Guangdong Women and Children Hospital, Guangzhou 511442, Guangdong Province, China.
2. Medical Genetics Center, Key Laboratory of Metabolic and Genetic Disease in Women and Children, Guangdong Women and Children Hospital, Guangzhou 511442, Guangdong Province, China,E-mail:jicheng0927@126.com.
- Publication Type:Journal Article
- MeSH:
Female;
Genetic Testing;
Humans;
Pregnancy;
Preimplantation Diagnosis;
Prenatal Diagnosis;
alpha-Thalassemia;
beta-Thalassemia;
genetics
- From:
Journal of Experimental Hematology
2019;27(5):1585-1591
- CountryChina
- Language:Chinese
-
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.
