Two single base polymorphisms in introns 41 and 16 of the NF1 gene
- 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, Vol. 60, Issue 2; Other Information: PBD: 24 Apr 1995
- Country of Publication:
- United States
- Language:
- English
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