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Preimplantation genetic diagnosis for fragile X syndrome: is there increased transmission of abnormal FMR1 alleles among female heterozygotes? by Adi Reches; Mira Malcov; Dalit Ben‐Yosef; Foad Azem; Ami Amit; Yuval Yaron is a Medicine article available to read on EtoBox.

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## Abstract ## Background Fragile X syndrome is caused by a CGG triplet‐repeat expansion mutation in the __FMR1__ gene. Previous studies have shown increased transmission of abnormal alleles in the 51–60 repeat range. This study was undertaken to evaluate the performance of preimplantation genetic diagnosis (PGD) for fragile X, and to assess the transmission rate of the abnormal FMR1 alleles in this setting. ## Method The study included 18 fragile X carriers who applied for PGD. FMR1 CGG repeats ranged from 70 to 300. PGD was performed using multiplex‐nested PCR, with simultaneous amplification of the CGG repeat region and several polymorphic markers, and sex chromosome markers. ## Results Four patients had a poor ovarian response, and could not undergo PGD. The remaining 14 patients underwent 47 PGD cycles. A total of 565 oocytes were aspirated. Of the 386 embryos that were successfully biopsied, 18 (6.4%) could not be analyzed due to amplification failure, and 12 (4.3%) had sex chromosomal abnormalities. Of the remaining 250 embryos, the abnormal allele was transmitted to 124 embryos (49.6%) compared to 126 (50.4%) for the normal allele. This difference was not statistically sign

Who reads Preimplantation genetic diagnosis for fragile X syndrome: is there increased transmission of abnormal FMR1 alleles among female heterozygotes??

Author

Adi Reches; Mira Malcov; Dalit Ben‐Yosef; Foad Azem; Ami Amit; Yuval Yaron

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley; Research Square (ISSN 0197-3851)

Published

2008

Language

EN

Field

Medicine (Health Sciences)