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Article

Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test

6 Oct 1993

Abstract excerpt

OBJECTIVE: To develop a rapid, nonradioactive test using the polymerase chain reaction (PCR) capable of detecting full fragile X mutations, premutations, and resolving normal alleles and to apply this to prenatal diagnosis and carrier screening of pregnant women at risk for fragile X carrier status. DESIGN: Prenatal and blood sample PCR analysis with confirmation by direct Southern blotting and cytogenetic...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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Identifiers

PMID: 8371467
DOI: 10.1001/jama.1993.03510130075034

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