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[Genetic Analysis, Prenatal Diagnosis and Preimplantation Genetic Diagnosis of Taiwanese Deletion β-Thalassemia].
Zhongguo Shi Yan Xue Ye Xue Za Zhi 2019; 27(5):1585-1591ZS

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.

Authors+Show Affiliations

Medical Genetics Center, Key Laboratory of Metabolic and Genetic Disease in Women and Children, Guangdong Women and Children Hospital, Guangzhou 511442, Guangdong Province, China.Medical Genetics Center, Key Laboratory of Metabolic and Genetic Disease in Women and Children, Guangdong Women and Children Hospital, Guangzhou 511442, Guangdong Province, China.Medical Genetics Center, Key Laboratory of Metabolic and Genetic Disease in Women and Children, Guangdong Women and Children Hospital, Guangzhou 511442, Guangdong Province, China.Medical Genetics Center, Key Laboratory of Metabolic and Genetic Disease in Women and Children, Guangdong Women and Children Hospital, Guangzhou 511442, Guangdong Province, China.Medical Genetics Center, Key Laboratory of Metabolic and Genetic Disease in Women and Children, Guangdong Women and Children Hospital, Guangzhou 511442, Guangdong Province, China.Medical Genetics Center, Key Laboratory of Metabolic and Genetic Disease in Women and Children, Guangdong Women and Children Hospital, Guangzhou 511442, Guangdong Province, China.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.

Pub Type(s)

Journal Article

Language

chi

PubMed ID

31607316

Citation

DU, Li, et al. "[Genetic Analysis, Prenatal Diagnosis and Preimplantation Genetic Diagnosis of Taiwanese Deletion Β-Thalassemia]." Zhongguo Shi Yan Xue Ye Xue Za Zhi, vol. 27, no. 5, 2019, pp. 1585-1591.
DU L, Qin DQ, Liu L, et al. [Genetic Analysis, Prenatal Diagnosis and Preimplantation Genetic Diagnosis of Taiwanese Deletion β-Thalassemia]. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2019;27(5):1585-1591.
DU, L., Qin, D. Q., Liu, L., Lu, J., Yao, C. Z., Huang, H. J., & Wang, J. C. (2019). [Genetic Analysis, Prenatal Diagnosis and Preimplantation Genetic Diagnosis of Taiwanese Deletion β-Thalassemia]. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 27(5), pp. 1585-1591. doi:10.19746/j.cnki.issn.1009-2137.2019.05.034.
DU L, et al. [Genetic Analysis, Prenatal Diagnosis and Preimplantation Genetic Diagnosis of Taiwanese Deletion Β-Thalassemia]. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2019;27(5):1585-1591. PubMed PMID: 31607316.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Genetic Analysis, Prenatal Diagnosis and Preimplantation Genetic Diagnosis of Taiwanese Deletion β-Thalassemia]. AU - DU,Li, AU - Qin,Dan-Qing, AU - Liu,Ling, AU - Lu,Jian, AU - Yao,Cui-Ze, AU - Huang,Hua-Jie, AU - Wang,Ji-Cheng, PY - 2019/10/15/entrez PY - 2019/10/15/pubmed PY - 2019/11/15/medline SP - 1585 EP - 1591 JF - Zhongguo shi yan xue ye xue za zhi JO - Zhongguo Shi Yan Xue Ye Xue Za Zhi VL - 27 IS - 5 N2 - 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. SN - 1009-2137 UR - https://www.unboundmedicine.com/medline/citation/31607316/[Genetic_Analysis,_Prenatal_Diagnosis_and_Preimplantation_Genetic_Diagnosis_of_Taiwanese_Deletion_β-Thalassemia] DB - PRIME DP - Unbound Medicine ER -