PRE-IMPLANTATION GENETIC DIAGNOSIS USING POLAR BODIES
Tomi D1,*, Voigt R1, Eckhold J1, Hinrichs F1, Griesinger G2, Shulze-Mosgau A2, Schöpper B2, Al-Hasani S2, Diedrich K2, Schwinger E1
*Corresponding Author: Dr. Diana Tomi, Institute of Human Genetics, Medical University of Lübeck, RatzeČburger Allee 160, 23538 Lübeck, Germany; Tel.: +49(0)451-500-2621; Fax: +49(0)451-500-4187; E-mail: dianatomi@hotmail.com
page: 17

RESULTS

Molecular Genetic Diagnosis for Cystic Fibrosis. From couple A, five PBs were available after ICSI. Three out of five PBs (#1, #2 and #4) (Table 1) were heterozy­gous. Polar body #3 and #5 were hemizygous, showing the wild type alleles. No oocyte was appropriate to be trans­ferred.

Twelve PBs were available from couple B (Table 2). Nine PBs were heterozygous. Polar body #12 failed to amplify to any of the tested markers. Polar body #3 showed wild type alleles; PB #11 showed a heterozygosity for the mutation region but polymorphic markers showed only alleles linked to the mutation. Two makers, D7S480 in PB #3 and D7S486 in PB #4, showed contamination. Oozyte #11 was transferred but no pregnancy was estab­lished.

Second PB of oocytes #2, #3, #4, #5, #10 and #12 were taken prior to cryopreservation (Table 3). In PB #2 and #12, no allele could be amplified. Polar bodies #3 and #4 were heterozygous; PB #5 showed the wild type allele and linked polymorphic markers, while PB #10 showed linked polymorphic markers to the mutation re­gion. Contamination was detected in marker D7S480 in PB #4.

Molecular Cytogenetic Diagnosis for Aneuploidies. Polar body diagnoses for aneuploidies were performed in 13 cases. A total of 102 PBs from 13 patients were ana­lyzed using FISH (Table 4). Ninety-one (89.2%) PBs could be detected on the slides; 18 (19.8%) of the de­tected PBs were aneuploid for chromosomes 15, 16 and/or 22. No information about the aneuploidies was available in 55 PBs due to hybridization failure. Up to three oozytes were transferred but no pregnancy has been established.

 




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