Tags

Type your tag names separated by a space and hit enter

[Successful preimplantation genetic diagnosis for beta-thalassemia using primer extension preamplification].
Zhonghua Fu Chan Ke Za Zhi 2003; 38(3):143-6ZF

Abstract

OBJECTIVE

To achieve preimplantation genetic diagnosis (PGD) of the couples at risk of having children with beta-thalassemia, as an alternative to prenatal diagnosis.

METHODS

Two couples carrying different thalassemia mutations of codon 41/42 and codon intervening sequence 2 position 654 received standard in vitro fertilization treatment and intracytoplasmic sperm injection, embryo biopsy and the whole genome was amplified by primer extension preamplification (PEP). Nested polymerase chain reaction was then used to amplify two mutation sites separately. Both were detected by reverse dot-blot.

RESULTS

A total of 35 oocytes were retrieved from the two patients. Among them, 87% showed two pronuclei, and embryo biopsy was performed on 16 of these embryos and 25 blastomeres were obtained. The amplification efficacy was 84%. The genotype study of non-transferred and surplus embryos showed 15% of allele drop-out rate. Five embryos were transferred to the uterus of both patients. One pregnancy achieved, resulted in live healthy twin births, which confirmed the results of PGD.

CONCLUSIONS

This unaffected pregnancy resulting from PGD by PEP for beta-thalassemia demonstrates that this technique can be a effective diagnostic tool for carrier couples who desire a healthy child.

Authors+Show Affiliations

Reproductive Medical Center, Department of Obstetrics and Gynecology, First Affiliated Hospital of Sun Yet-Sen University, Guangzhou 510080, China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

chi

PubMed ID

12816687

Citation

Jiao, Ze-xu, et al. "[Successful Preimplantation Genetic Diagnosis for Beta-thalassemia Using Primer Extension Preamplification]." Zhonghua Fu Chan Ke Za Zhi, vol. 38, no. 3, 2003, pp. 143-6.
Jiao ZX, Zhuang GL, Zhou CQ, et al. [Successful preimplantation genetic diagnosis for beta-thalassemia using primer extension preamplification]. Zhonghua Fu Chan Ke Za Zhi. 2003;38(3):143-6.
Jiao, Z. X., Zhuang, G. L., Zhou, C. Q., Shu, Y. M., Li, J., Liang, X. Y., ... Deng, M. F. (2003). [Successful preimplantation genetic diagnosis for beta-thalassemia using primer extension preamplification]. Zhonghua Fu Chan Ke Za Zhi, 38(3), pp. 143-6.
Jiao ZX, et al. [Successful Preimplantation Genetic Diagnosis for Beta-thalassemia Using Primer Extension Preamplification]. Zhonghua Fu Chan Ke Za Zhi. 2003;38(3):143-6. PubMed PMID: 12816687.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Successful preimplantation genetic diagnosis for beta-thalassemia using primer extension preamplification]. AU - Jiao,Ze-xu, AU - Zhuang,Guang-lun, AU - Zhou,Can-quan, AU - Shu,Yi-min, AU - Li,Je, AU - Liang,Xiao-yan, AU - Zhang,Min-fang, AU - Deng,Ming-fen, PY - 2003/6/21/pubmed PY - 2005/1/12/medline PY - 2003/6/21/entrez SP - 143 EP - 6 JF - Zhonghua fu chan ke za zhi JO - Zhonghua Fu Chan Ke Za Zhi VL - 38 IS - 3 N2 - OBJECTIVE: To achieve preimplantation genetic diagnosis (PGD) of the couples at risk of having children with beta-thalassemia, as an alternative to prenatal diagnosis. METHODS: Two couples carrying different thalassemia mutations of codon 41/42 and codon intervening sequence 2 position 654 received standard in vitro fertilization treatment and intracytoplasmic sperm injection, embryo biopsy and the whole genome was amplified by primer extension preamplification (PEP). Nested polymerase chain reaction was then used to amplify two mutation sites separately. Both were detected by reverse dot-blot. RESULTS: A total of 35 oocytes were retrieved from the two patients. Among them, 87% showed two pronuclei, and embryo biopsy was performed on 16 of these embryos and 25 blastomeres were obtained. The amplification efficacy was 84%. The genotype study of non-transferred and surplus embryos showed 15% of allele drop-out rate. Five embryos were transferred to the uterus of both patients. One pregnancy achieved, resulted in live healthy twin births, which confirmed the results of PGD. CONCLUSIONS: This unaffected pregnancy resulting from PGD by PEP for beta-thalassemia demonstrates that this technique can be a effective diagnostic tool for carrier couples who desire a healthy child. SN - 0529-567X UR - https://www.unboundmedicine.com/medline/citation/12816687/[Successful_preimplantation_genetic_diagnosis_for_beta_thalassemia_using_primer_extension_preamplification]_ L2 - http://www.diseaseinfosearch.org/result/814 DB - PRIME DP - Unbound Medicine ER -