Reports from Shaare Zedek Medical Center describe recent advances in genetics & genomics
2007 MAY 15 -- Scientists discuss in "Advantages of multiple markers and polar body analysis in preimplantation genetic diagnosis for Alagille disease" new findings in & genomics. "The development of a preimplantation genetic diagnosis (PGD) protocol for Alagille syndrome (AGS), a rare autosomal dominant disorder with hepatic, cardiac and ophthalmologic involvement. We developed a polar body (PB)-based multiplex fluorescent PCR reaction for a female affected with AGS," researchers in Jerusalem, Israel report. "The protocol included analysis of the Jagged 1 (JAG1) familial mutation and five closely linked highly polymorphic markers (D20S162, D20S901, D20S894, and D20S186). In two cycles of PGD 9 of ten embryos were accurately diagnosed by assessment of first and second PBs, one embryo required additional blastomere biopsy. This protocol takes advantage of the larger window of opportunity for transfer and the increased accuracy of diagnosis afforded by the combination of PB biopsy and multiple marker analysis," wrote P. Renbaum and colleagues, Shaare Zedek Medical Center. The researchers concluded: "Two cycles resulted in the transfer of two and three mutation-free embryos and a subsequent pregnancy as measured by the rising hCG levels." Renbaum and colleagues published their study in Prenatal Diagnosis (Advantages of multiple markers and polar body analysis in preimplantation genetic diagnosis for Alagille disease. Prenatal Diagnosis, 2007;27(4):317-21). For additional information, contact P. Renbaum, Medical Genetics, Zohar PGD Laboratory, Shaare Zedek Medical Center, Jerusalem, Israel. Publisher contact information for the journal Prenatal Diagnosis is: John Wiley & Sons Ltd., the Atrium, Southern Gate, Chichester PO19 8SQ, W Sussex, England. Keywords: Israel, Jerusalem, Genetics & Genomics, Genetics. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.
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