A Tsp509I variant in exon 13 of the neurofibromatosis type 1 (NF1) gene allows the identification of both alleles at the mRNA level

V Régnier; G Danglot; V C Nguyen; A Bernheim

doi:10.1007/BF00214202

A Tsp509I variant in exon 13 of the neurofibromatosis type 1 (NF1) gene allows the identification of both alleles at the mRNA level

Hum Genet. 1995 Jul;96(1):131-2. doi: 10.1007/BF00214202.

Authors

V Régnier¹, G Danglot, V C Nguyen, A Bernheim

Affiliation

¹ Laboratoire de Cytogénétique et Génétique Oncologiques, CNRS URA 1158, Institut Gustave Roussy, Villejuif, France.

PMID: 7607647
DOI: 10.1007/BF00214202

Abstract

We describe here a new sequence variant occurring in the coding region of the neurofibromatosis (NF1) gene (exon 13). This exonic polymorphism can be directly investigated by simple restriction enzyme digestion of RT-PCR (reverse transcription-polymerase chain reaction) products, making it a powerful tool for examining allele-specific mRNA expression levels.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Alleles*
Base Sequence
Exons / genetics*
Humans
Molecular Sequence Data
Neurofibromatosis 1 / genetics*
Polymerase Chain Reaction
Polymorphism, Genetic
RNA, Messenger / genetics*
RNA, Neoplasm / genetics

Substances

RNA, Messenger
RNA, Neoplasm