Absence of linkage of ABO blood group locus to familial tuberous sclerosis

R. S. Kandt, Margaret A Pericak-Vance, W. Y. Hung, R. J M Gardner, M. Nellist, K. Phillips, K. Warner, M. C. Speer, P. E. Crossen, N. G. Laing, A. D. Roses

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

A mutation leading to tuberous sclerosis was linked to the ABO blood group locus (9q34) on the long arm of chromosome 9. In an effort to confirm this assignment, nine multigenerational families with tuberous sclerosis, comprising 126 sampled individuals, were assessed for linkage of the ABO locus to tuberous sclerosis. Two-point linkage analysis and multilocus linkage analysis were used to evaluate linkage between tuberous sclerosis and the markers ABO, MCT136, and AblK2. Linkage of ABO to tuberous sclerosis was excluded for a distance of 20 centimorgans (cM) encompassing the region of the ABO locus. There was no evidence for genetic heterogeneity within this data set. Using 23 polymorphic markers, exclusion mapping demonstrated only a 1% probability that the tuberous sclerosis locus was on the distal short arm of chromosome 9 and provided no evidence in support of a tuberous sclerosis locus on the remainder of chromosome 9 including the area of the ABO locus.

Original languageEnglish
Pages (from-to)223-228
Number of pages6
JournalExperimental Neurology
Volume104
Issue number3
DOIs
StatePublished - Jan 1 1989
Externally publishedYes

Fingerprint

Tuberous Sclerosis
Blood Group Antigens
Chromosomes, Human, Pair 9
Genetic Heterogeneity
Mutation

ASJC Scopus subject areas

  • Neuroscience(all)
  • Neurology

Cite this

Kandt, R. S., Pericak-Vance, M. A., Hung, W. Y., Gardner, R. J. M., Nellist, M., Phillips, K., ... Roses, A. D. (1989). Absence of linkage of ABO blood group locus to familial tuberous sclerosis. Experimental Neurology, 104(3), 223-228. https://doi.org/10.1016/0014-4886(89)90033-2

Absence of linkage of ABO blood group locus to familial tuberous sclerosis. / Kandt, R. S.; Pericak-Vance, Margaret A; Hung, W. Y.; Gardner, R. J M; Nellist, M.; Phillips, K.; Warner, K.; Speer, M. C.; Crossen, P. E.; Laing, N. G.; Roses, A. D.

In: Experimental Neurology, Vol. 104, No. 3, 01.01.1989, p. 223-228.

Research output: Contribution to journalArticle

Kandt, RS, Pericak-Vance, MA, Hung, WY, Gardner, RJM, Nellist, M, Phillips, K, Warner, K, Speer, MC, Crossen, PE, Laing, NG & Roses, AD 1989, 'Absence of linkage of ABO blood group locus to familial tuberous sclerosis', Experimental Neurology, vol. 104, no. 3, pp. 223-228. https://doi.org/10.1016/0014-4886(89)90033-2
Kandt, R. S. ; Pericak-Vance, Margaret A ; Hung, W. Y. ; Gardner, R. J M ; Nellist, M. ; Phillips, K. ; Warner, K. ; Speer, M. C. ; Crossen, P. E. ; Laing, N. G. ; Roses, A. D. / Absence of linkage of ABO blood group locus to familial tuberous sclerosis. In: Experimental Neurology. 1989 ; Vol. 104, No. 3. pp. 223-228.
@article{9b822d9153fb4295b43e4f54034369b5,
title = "Absence of linkage of ABO blood group locus to familial tuberous sclerosis",
abstract = "A mutation leading to tuberous sclerosis was linked to the ABO blood group locus (9q34) on the long arm of chromosome 9. In an effort to confirm this assignment, nine multigenerational families with tuberous sclerosis, comprising 126 sampled individuals, were assessed for linkage of the ABO locus to tuberous sclerosis. Two-point linkage analysis and multilocus linkage analysis were used to evaluate linkage between tuberous sclerosis and the markers ABO, MCT136, and AblK2. Linkage of ABO to tuberous sclerosis was excluded for a distance of 20 centimorgans (cM) encompassing the region of the ABO locus. There was no evidence for genetic heterogeneity within this data set. Using 23 polymorphic markers, exclusion mapping demonstrated only a 1{\%} probability that the tuberous sclerosis locus was on the distal short arm of chromosome 9 and provided no evidence in support of a tuberous sclerosis locus on the remainder of chromosome 9 including the area of the ABO locus.",
author = "Kandt, {R. S.} and Pericak-Vance, {Margaret A} and Hung, {W. Y.} and Gardner, {R. J M} and M. Nellist and K. Phillips and K. Warner and Speer, {M. C.} and Crossen, {P. E.} and Laing, {N. G.} and Roses, {A. D.}",
year = "1989",
month = "1",
day = "1",
doi = "10.1016/0014-4886(89)90033-2",
language = "English",
volume = "104",
pages = "223--228",
journal = "Experimental Neurology",
issn = "0014-4886",
publisher = "Academic Press Inc.",
number = "3",

}

TY - JOUR

T1 - Absence of linkage of ABO blood group locus to familial tuberous sclerosis

AU - Kandt, R. S.

AU - Pericak-Vance, Margaret A

AU - Hung, W. Y.

AU - Gardner, R. J M

AU - Nellist, M.

AU - Phillips, K.

AU - Warner, K.

AU - Speer, M. C.

AU - Crossen, P. E.

AU - Laing, N. G.

AU - Roses, A. D.

PY - 1989/1/1

Y1 - 1989/1/1

N2 - A mutation leading to tuberous sclerosis was linked to the ABO blood group locus (9q34) on the long arm of chromosome 9. In an effort to confirm this assignment, nine multigenerational families with tuberous sclerosis, comprising 126 sampled individuals, were assessed for linkage of the ABO locus to tuberous sclerosis. Two-point linkage analysis and multilocus linkage analysis were used to evaluate linkage between tuberous sclerosis and the markers ABO, MCT136, and AblK2. Linkage of ABO to tuberous sclerosis was excluded for a distance of 20 centimorgans (cM) encompassing the region of the ABO locus. There was no evidence for genetic heterogeneity within this data set. Using 23 polymorphic markers, exclusion mapping demonstrated only a 1% probability that the tuberous sclerosis locus was on the distal short arm of chromosome 9 and provided no evidence in support of a tuberous sclerosis locus on the remainder of chromosome 9 including the area of the ABO locus.

AB - A mutation leading to tuberous sclerosis was linked to the ABO blood group locus (9q34) on the long arm of chromosome 9. In an effort to confirm this assignment, nine multigenerational families with tuberous sclerosis, comprising 126 sampled individuals, were assessed for linkage of the ABO locus to tuberous sclerosis. Two-point linkage analysis and multilocus linkage analysis were used to evaluate linkage between tuberous sclerosis and the markers ABO, MCT136, and AblK2. Linkage of ABO to tuberous sclerosis was excluded for a distance of 20 centimorgans (cM) encompassing the region of the ABO locus. There was no evidence for genetic heterogeneity within this data set. Using 23 polymorphic markers, exclusion mapping demonstrated only a 1% probability that the tuberous sclerosis locus was on the distal short arm of chromosome 9 and provided no evidence in support of a tuberous sclerosis locus on the remainder of chromosome 9 including the area of the ABO locus.

UR - http://www.scopus.com/inward/record.url?scp=0024322303&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0024322303&partnerID=8YFLogxK

U2 - 10.1016/0014-4886(89)90033-2

DO - 10.1016/0014-4886(89)90033-2

M3 - Article

C2 - 2721625

AN - SCOPUS:0024322303

VL - 104

SP - 223

EP - 228

JO - Experimental Neurology

JF - Experimental Neurology

SN - 0014-4886

IS - 3

ER -