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Article

Polymerase chain reaction analysis of fragile X mutations.

Human genetics - 1 Jan 2000

Erster S H, Brown W T, Goonewardena P, Dobkin C S, Jenkins E C, Pergolizzi R G

Abstract excerpt

The mutation that underlies the fragile X syndrome is presumed to be a large expansion in the number of CGG repeats within the gene FMR-1. The unusually GC-rich composition of the expanded region has impeded attempts to amplify it by the polymerase chain reaction (PCR). We have developed a PCR protocol that successfully amplifies the (CGG)n region in normal, carrier and affected individuals. The PCR analysis of...

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PMID: 1427787
DOI: 10.1007/BF00210744

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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