Publication Date:
1987-05-29
Description:
Linkage analysis of 15 Utah kindreds demonstrated that a gene responsible for von Recklinghausen neurofibromatosis (NF) is located near the centromere on chromosome 17. The families also gave no evidence for heterogeneity, indicating that a significant proportion of NF cases are due to mutations at a single locus. Further genetic analysis can now refine this localization and may lead to the eventual identification and cloning of the defective gene responsible for this disorder.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Barker, D -- Wright, E -- Nguyen, K -- Cannon, L -- Fain, P -- Goldgar, D -- Bishop, D T -- Carey, J -- Baty, B -- Kivlin, J -- CA 28854/CA/NCI NIH HHS/ -- CA 36362/CA/NCI NIH HHS/ -- GM 29090/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 1987 May 29;236(4805):1100-2.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/3107130" target="_blank"〉PubMed〈/a〉
Keywords:
Centromere
;
Chromosome Mapping
;
*Chromosomes, Human, Pair 17/ultrastructure
;
DNA, Recombinant
;
Female
;
*Genes
;
Genetic Linkage
;
Humans
;
Male
;
Neurofibromatosis 1/*genetics
;
Nucleic Acid Hybridization
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
Permalink
