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Literature DB >> 2491775

Genetic analysis of eight loci tightly linked to neurofibromatosis 1.

K Stephens¹, P Green, V M Riccardi, S Ng, M Rising, D Barker, J K Darby, K M Falls, F S Collins, H F Willard.

Abstract

The genetic locus for neurofibromatosis 1 (NF1) has recently been mapped to the pericentromeric region of chromosome 17. We have genotyped eight previously identified RFLP probes on 50 NF1 families to determine the placement of the NF1 locus relative to the RFLP loci. Thirty-eight recombination events in the pericentromeric region were identified, eight involving crossovers between NF1 and loci on either chromosomal arm. Multipoint linkage analysis resulted in the unique placement of six loci at odds greater than 100:1 in the order of pter-A10-41-EW301-NF1-EW207-CRI-L581-CRI-L946 -qter. Owing to insufficient crossovers, three loci--D17Z1, EW206, and EW203--could not be uniquely localized. In this region female recombination rates were significantly higher than those of males. These data were part of a joint study aimed at the localization of both NF1 and tightly linked pericentromeric markers for chromosome 17.

Entities: Gene

Mesh：

Substances：
Genetic Markers

Year: 1989 PMID： 2491775 PMCID： PMC1715471

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

20 in total

1. Von Recklinghausen neurofibromatosis and genetic linkage studies: clinical considerations.

Authors: V M Riccardi; J C Carey
Journal: J Med Genet Date: 1987-09 Impact factor: 6.318

2. A routine method for the establishment of permanent growing lymphoblastoid cell lines.

Authors: H Neitzel
Journal: Hum Genet Date: 1986-08 Impact factor: 4.132

3. Detection of restriction fragment length polymorphisms at the centromeres of human chromosomes by using chromosome-specific alpha satellite DNA probes: implications for development of centromere-based genetic linkage maps.

Authors: H F Willard; J S Waye; M H Skolnick; C E Schwartz; V E Powers; S B England
Journal: Proc Natl Acad Sci U S A Date: 1986-08 Impact factor: 11.205

Genetic analysis of eight loci tightly linked to neurofibromatosis 1.

1. Von Recklinghausen neurofibromatosis and genetic linkage studies: clinical considerations.

2. A routine method for the establishment of permanent growing lymphoblastoid cell lines.

3. Detection of restriction fragment length polymorphisms at the centromeres of human chromosomes by using chromosome-specific alpha satellite DNA probes: implications for development of centromere-based genetic linkage maps.

4. Molecular detection of a translocation (Y;15) in a 45,X male.

5. A genetic linkage map of the human genome.

6. Genetic analysis of NF1: identification of close flanking markers on chromosome 17.

7. Genetic linkage map of human chromosome 7 with 63 DNA markers.

8. Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene.

9. Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17.

10. Molecular characterisation of a hypervariable region downstream of the human alpha-globin gene cluster.

1. Neurofibromatosis: chronological history and current issues.

2. The von Recklinghausen neurofibromatosis region on chromosome 17--genetic and physical maps come into focus.

3. Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes.

4. Multipoint linkage analysis in neurofibromatosis type I: an international collaboration.

5. A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene.

6. Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1.

7. Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.