NDLI: Dual blastomere analysis improves reliability of preimplantation trembler mouse diagnosis

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Human Genetics : Volume 101, Issue 1, October 1997

Human Genetics : Volume 100

Human Genetics : Volume 99

Dual blastomere analysis improves reliability of preimplantation trembler mouse diagnosis

Content Provider	Springer Nature Link
Author	Sago, H. Kim, H. S. Goldberg, James D. Chung, Jae Hyun Pedersen, Roger A. Lebo, Roger V.
Copyright Year	1997
Abstract	Dual blastomere biopsy and independent blastomere analysis dramatically improved preimplantation diagnostic reliability as confirmed by testing the remaining biopsied eight-cell mouse embryo. The autosomal dominant trembler mouse point mutation was selected as a model for human preimplantation diagnosis because: (1) single cell assay failure is predicted to be the highest when testing autosomal dominant mutations; (2) point mutations represent the most common of all mutation categories and the most demanding mutation to assay reliably; and (3) the trembler mouse point mutation in peripheral myelin protein 22 (Pmp22) is a model of human Charcot-Marie-Tooth type 1A disease. Mathematical models predict our experimental results assuming amplification of 80% of each target allele as well as trembler sperm DNA contamination in 1 of 44 normal biopsied single blastomeres. Single blastomere analysis correctly predicted the genotype in only 84% of embryos that would have been implanted as normal. In contrast, when independent tests of both biopsied blastomeres agreed, test results were confirmed in 20 of 21 (95.2%) of the remaining six-cell biopsied embryos designated as normal. Thus, biopsied six-cell embryo confirmation demonstrated that dual biopsied blastomere analysis improved test reliability remarkably.
Starting Page	223
Ending Page	228
Page Count	6
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	101
Issue Number	2
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	1997-11-17
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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