Accuracy of preimplantation genetic diagnosis (PGD) of single gene and chromosomal disorders

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:133440

Verlinsky, Y; Strom, C; Rechitsky, S ^[1]

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1. Reproductive Genetics Institute, Chicage, IL (United States); and others

We have developed a polar body inferred approach for preconception diagnosis of single gene and chromosomal disorders. Preconception PCR or FISH analysis was performed in a total of 310 first polar bodies for the following genetic conditions: cystic fibrosis, hemophilia A, alpha-1-antitrypsin deficiency, Tay Sachs disease, retinitis pigmentosa and common chromosomal trisomies. An important advantage of this approach is the avoidance of sperm (DNA) contamination, which is the major problem of PGD. We are currently applying FISH analysis of biopsied blastomeres, in combination with PCR or separately, and have demonstrated a significant improvement of the accuracy of PGD of X-linked disorders at this stage. Our data have also demonstrated feasibility of the application of FISH technique for PGD of chromosomal disorders. It was possible to detect chromosomal non-disjunctions and chromatid malsegregations in the first meiotic division, as well as to evaluate chromosomal mutations originating from the second meiotic nondisjunction.

• OSTI ID: 133440
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
ACCURACY
ANEUPLOIDY
CHROMOSOMAL ABERRATIONS
DETECTION
DIAGNOSIS
DNA HYBRIDIZATION
FERTILIZATION
FLUORESCENCE
GENE MUTATIONS
GENES
HEREDITARY DISEASES
HUMAN CHROMOSOMES
IN VITRO
MEIOSIS
NON-DISJUNCTION
OOCYTES
PATIENTS
POLYMERASE CHAIN REACTION