Frequency of FRM1 premutations in a consecutive newborn Manitoba population of PCR of Guthrie blood spots

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

OSTI ID:133890

Dawson, A J; Chudley, A E; Chodirker, B ^[1]

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1. Univ. of Manitoba, Winnipeg (Canada)

We have analyzed the frequency of premutations of the FRM1 gene in 3000 X chromosomes of 1000 male and 1000 female consecutive newborn Guthrie blood spots in an unlinked, anonymous survey. The CGG repeat sizes were calculated by measuring the length of products of the PCR reaction based on the molecular size of labeled markers in a denaturing sequencing gel assay. For consistent PCR amplification a DNA microextraction was necessary, including a phenol/chloroform series. In our population, the CGG repeat ranged from 9-106 but 96% of alleles had fewer than 40 repeats. The most frequent allele was a repeat of 28. Approximately 2.7% of alleles had CGG repeats ranging from 40-49 and 0.36% of alleles had repeats ranging from 50-59. The frequency of alleles {ge}60 repeats in the Manitoba population is approximately 0.18%. The use of Guthrie blood spots for population screening of fra(X) premutations is not recommended. The necessity of a phenol/chloroform DNA microextraction is tedious and time consuming. The low yield of DNA (-250 ng) does not allow for re-analysis by Southern blot of apparently homozygous females and may result in an underestimate of premutation carrier status.

• OSTI ID: 133890
• 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
BIOLOGICAL MARKERS
DNA SEQUENCING
GENE MUTATIONS
GENES
HUMAN X CHROMOSOME
MANITOBA
MUTATION FREQUENCY
NEONATES
NUCLEOTIDES
POLYMERASE CHAIN REACTION
SCREENING
SIZE