Two single base polymorphisms in introns 41 and 16 of the NF1 gene
Abstract
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.
- Authors:
-
- Univ. of Wales, Cardiff (United Kingdom)
- Publication Date:
- Sponsoring Org.:
- USDOE
- OSTI Identifier:
- 393896
- Resource Type:
- Journal Article
- Journal Name:
- American Journal of Medical Genetics
- Additional Journal Information:
- Journal Volume: 60; Journal Issue: 2; Other Information: PBD: 24 Apr 1995
- Country of Publication:
- United States
- Language:
- English
- Subject:
- 55 BIOLOGY AND MEDICINE, BASIC STUDIES; GENES; GENE MUTATIONS; DNA SEQUENCING; MUTATION FREQUENCY; INTRONS; NERVOUS SYSTEM DISEASES; PATIENTS; HEREDITARY DISEASES; PHENOTYPE; DETECTION; POLYMERASE CHAIN REACTION; EXONS; ELECTROPHORESIS; NUCLEOTIDES
Citation Formats
Shen, Ming Hong, and Upadhyaya, M. Two single base polymorphisms in introns 41 and 16 of the NF1 gene. United States: N. p., 1995.
Web. doi:10.1002/ajmg.1320600211.
Shen, Ming Hong, & Upadhyaya, M. Two single base polymorphisms in introns 41 and 16 of the NF1 gene. United States. https://doi.org/10.1002/ajmg.1320600211
Shen, Ming Hong, and Upadhyaya, M. 1995.
"Two single base polymorphisms in introns 41 and 16 of the NF1 gene". United States. https://doi.org/10.1002/ajmg.1320600211.
@article{osti_393896,
title = {Two single base polymorphisms in introns 41 and 16 of the NF1 gene},
author = {Shen, Ming Hong and Upadhyaya, M},
abstractNote = {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.},
doi = {10.1002/ajmg.1320600211},
url = {https://www.osti.gov/biblio/393896},
journal = {American Journal of Medical Genetics},
number = 2,
volume = 60,
place = {United States},
year = {Mon Apr 24 00:00:00 EDT 1995},
month = {Mon Apr 24 00:00:00 EDT 1995}
}