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

S. R. Diehl, M. Boehnke, R. P. Erickson, L. M. Ploughman, K. A. Seiler, J. L. Lieberman, H. B. Clarke, M. A. Bruce, E. K. Schorry, Margaret A Pericak-Vance, P. O'Connell, F. S. Collins

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

The von Recklinghausen neurofibromatosis (NF1) gene has been mapped to the pericentromeric region of chromosome 17. We conducted linkage analysis of NF1 by using 10 polymorphic DNA markers from this chromosomal region. We ascertained 20 American Caucasian NF1 families (163 individuals, 98 NF1 afffected) in Michigan and Ohio and also studied a large family ascertained primarily in North Carolina. The following markers were used in this study: HHH202, TH17.19, D17Z1, ERBA1, EW203, EW206, EW207, EW301, CRI-L581, and CRI-L946. NF1 did not recombine with either TH17.19 or HHH202 in any of the informative meioses surveyed (maximum lod scores of 17.04 and 7.21, respectively, at a recombination fraction of .00), indicating that these markers map very close to the NF1 gene. We also report evidence of three instances of recombination between NF1 and the centromeric marker D17Z1 (maximum lod score of 13.43 at a recombination fraction of .04), as well as two crossovers between pairs of marker loci. We find no evidence of locus heterogeneity, and our results support the localization of the NF1 gene to proximal chromosome 17q.

Original languageEnglish
Pages (from-to)33-37
Number of pages5
JournalAmerican Journal of Human Genetics
Volume44
Issue number1
StatePublished - Jan 1 1989
Externally publishedYes

Fingerprint

Chromosomes, Human, Pair 17
Neurofibromatoses
Genetic Recombination
Lod Score
Genes
Meiosis
Genetic Markers
Chromosomes

ASJC Scopus subject areas

  • Genetics

Cite this

Diehl, S. R., Boehnke, M., Erickson, R. P., Ploughman, L. M., Seiler, K. A., Lieberman, J. L., ... Collins, F. S. (1989). A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene. American Journal of Human Genetics, 44(1), 33-37.

A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene. / Diehl, S. R.; Boehnke, M.; Erickson, R. P.; Ploughman, L. M.; Seiler, K. A.; Lieberman, J. L.; Clarke, H. B.; Bruce, M. A.; Schorry, E. K.; Pericak-Vance, Margaret A; O'Connell, P.; Collins, F. S.

In: American Journal of Human Genetics, Vol. 44, No. 1, 01.01.1989, p. 33-37.

Research output: Contribution to journalArticle

Diehl, SR, Boehnke, M, Erickson, RP, Ploughman, LM, Seiler, KA, Lieberman, JL, Clarke, HB, Bruce, MA, Schorry, EK, Pericak-Vance, MA, O'Connell, P & Collins, FS 1989, 'A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene', American Journal of Human Genetics, vol. 44, no. 1, pp. 33-37.
Diehl SR, Boehnke M, Erickson RP, Ploughman LM, Seiler KA, Lieberman JL et al. A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene. American Journal of Human Genetics. 1989 Jan 1;44(1):33-37.
Diehl, S. R. ; Boehnke, M. ; Erickson, R. P. ; Ploughman, L. M. ; Seiler, K. A. ; Lieberman, J. L. ; Clarke, H. B. ; Bruce, M. A. ; Schorry, E. K. ; Pericak-Vance, Margaret A ; O'Connell, P. ; Collins, F. S. / A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene. In: American Journal of Human Genetics. 1989 ; Vol. 44, No. 1. pp. 33-37.
@article{7b1bbe0bee4444b2a24d670b7f9f42e6,
title = "A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene",
abstract = "The von Recklinghausen neurofibromatosis (NF1) gene has been mapped to the pericentromeric region of chromosome 17. We conducted linkage analysis of NF1 by using 10 polymorphic DNA markers from this chromosomal region. We ascertained 20 American Caucasian NF1 families (163 individuals, 98 NF1 afffected) in Michigan and Ohio and also studied a large family ascertained primarily in North Carolina. The following markers were used in this study: HHH202, TH17.19, D17Z1, ERBA1, EW203, EW206, EW207, EW301, CRI-L581, and CRI-L946. NF1 did not recombine with either TH17.19 or HHH202 in any of the informative meioses surveyed (maximum lod scores of 17.04 and 7.21, respectively, at a recombination fraction of .00), indicating that these markers map very close to the NF1 gene. We also report evidence of three instances of recombination between NF1 and the centromeric marker D17Z1 (maximum lod score of 13.43 at a recombination fraction of .04), as well as two crossovers between pairs of marker loci. We find no evidence of locus heterogeneity, and our results support the localization of the NF1 gene to proximal chromosome 17q.",
author = "Diehl, {S. R.} and M. Boehnke and Erickson, {R. P.} and Ploughman, {L. M.} and Seiler, {K. A.} and Lieberman, {J. L.} and Clarke, {H. B.} and Bruce, {M. A.} and Schorry, {E. K.} and Pericak-Vance, {Margaret A} and P. O'Connell and Collins, {F. S.}",
year = "1989",
month = "1",
day = "1",
language = "English",
volume = "44",
pages = "33--37",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "1",

}

TY - JOUR

T1 - A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene

AU - Diehl, S. R.

AU - Boehnke, M.

AU - Erickson, R. P.

AU - Ploughman, L. M.

AU - Seiler, K. A.

AU - Lieberman, J. L.

AU - Clarke, H. B.

AU - Bruce, M. A.

AU - Schorry, E. K.

AU - Pericak-Vance, Margaret A

AU - O'Connell, P.

AU - Collins, F. S.

PY - 1989/1/1

Y1 - 1989/1/1

N2 - The von Recklinghausen neurofibromatosis (NF1) gene has been mapped to the pericentromeric region of chromosome 17. We conducted linkage analysis of NF1 by using 10 polymorphic DNA markers from this chromosomal region. We ascertained 20 American Caucasian NF1 families (163 individuals, 98 NF1 afffected) in Michigan and Ohio and also studied a large family ascertained primarily in North Carolina. The following markers were used in this study: HHH202, TH17.19, D17Z1, ERBA1, EW203, EW206, EW207, EW301, CRI-L581, and CRI-L946. NF1 did not recombine with either TH17.19 or HHH202 in any of the informative meioses surveyed (maximum lod scores of 17.04 and 7.21, respectively, at a recombination fraction of .00), indicating that these markers map very close to the NF1 gene. We also report evidence of three instances of recombination between NF1 and the centromeric marker D17Z1 (maximum lod score of 13.43 at a recombination fraction of .04), as well as two crossovers between pairs of marker loci. We find no evidence of locus heterogeneity, and our results support the localization of the NF1 gene to proximal chromosome 17q.

AB - The von Recklinghausen neurofibromatosis (NF1) gene has been mapped to the pericentromeric region of chromosome 17. We conducted linkage analysis of NF1 by using 10 polymorphic DNA markers from this chromosomal region. We ascertained 20 American Caucasian NF1 families (163 individuals, 98 NF1 afffected) in Michigan and Ohio and also studied a large family ascertained primarily in North Carolina. The following markers were used in this study: HHH202, TH17.19, D17Z1, ERBA1, EW203, EW206, EW207, EW301, CRI-L581, and CRI-L946. NF1 did not recombine with either TH17.19 or HHH202 in any of the informative meioses surveyed (maximum lod scores of 17.04 and 7.21, respectively, at a recombination fraction of .00), indicating that these markers map very close to the NF1 gene. We also report evidence of three instances of recombination between NF1 and the centromeric marker D17Z1 (maximum lod score of 13.43 at a recombination fraction of .04), as well as two crossovers between pairs of marker loci. We find no evidence of locus heterogeneity, and our results support the localization of the NF1 gene to proximal chromosome 17q.

UR - http://www.scopus.com/inward/record.url?scp=0024498189&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0024498189&partnerID=8YFLogxK

M3 - Article

VL - 44

SP - 33

EP - 37

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 1

ER -