Two single base polymorphisms in introns 41 and 16 of the NF1 gene

Journal Article · Mon Apr 24 04:00:00 EDT 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320600211· OSTI ID:393896

Shen, Ming Hong; Upadhyaya, M ^[1]

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1. Univ. of Wales, Cardiff (United Kingdom)

We have characterized two intragenic polymorphisms in the neurofibromatosis type 1 (NF1) gene by direct sequencing of PCR products. The variants for these polymorphisms were initially detected on Hydrolink gels. One of the polymorphisms involves a G to A transition in intron 41 at the 28th base upstream of exon 42 with an observed {open_quote}G{close_quote}/{open_quote}A{close_quote} heterozygosity of 0.42. The other polymorphism is a T to C transition in intron 16 at the 16th base upstream of exon 17 with an observed {open_quote}T{close_quote}/{open_quote}C{close_quote} heterozygosity of 0.09. In combination with other documented polymorphisms in the NF1 gene, these variants should assist in genetic analysis of NF1 families. 24 refs., 3 figs.

• Sponsoring Organization: USDOE
• OSTI ID: 393896
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 2 Vol. 60; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
DETECTION
DNA SEQUENCING
ELECTROPHORESIS
EXONS
GENE MUTATIONS
GENES
HEREDITARY DISEASES
INTRONS
MUTATION FREQUENCY
NERVOUS SYSTEM DISEASES
NUCLEOTIDES
PATIENTS
PHENOTYPE
POLYMERASE CHAIN REACTION