Linkage of Niemann-Pick disease type C to human chromosome 18

E. D. Carstea, M. H. Polymeropoulos, C. C. Parker, S. D. Detera-Wadleigh, R. R. O'Neill, M. C. Patterson, E. Goldin, H. Xiao, R. E. Straub, M. T. Vanier, R. O. Brady, P. G. Pentchev

Research output: Contribution to journalArticle

99 Citations (Scopus)

Abstract

We analyzed the involvement of chromosome 18 in Niemann-Pick disease type C (NPC), an autosomal recessive cholesterol-processing disorder. Within affected offspring, the chromosome 18 parental contributions were identified by using allele-specific microsatellite markers. Significant linkage of NPC to an 18p genomic marker, D18S40, was indicated by a two-point lod score of 3.84. Analysis of meiotic chromosomal breakpoint patterns among the affected individuals indicated that the NPC gene is pericentromerically localized on human chromosome 18.

Original languageEnglish (US)
Pages (from-to)2002-2004
Number of pages3
JournalProceedings of the National Academy of Sciences of the United States of America
Volume90
Issue number5
StatePublished - 1993
Externally publishedYes

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Type C Niemann-Pick Disease
Chromosomes, Human, Pair 18
Human Chromosomes
Lod Score
Microsatellite Repeats
Alleles
Cholesterol
Genes

ASJC Scopus subject areas

  • General
  • Genetics

Cite this

Carstea, E. D., Polymeropoulos, M. H., Parker, C. C., Detera-Wadleigh, S. D., O'Neill, R. R., Patterson, M. C., ... Pentchev, P. G. (1993). Linkage of Niemann-Pick disease type C to human chromosome 18. Proceedings of the National Academy of Sciences of the United States of America, 90(5), 2002-2004.

Linkage of Niemann-Pick disease type C to human chromosome 18. / Carstea, E. D.; Polymeropoulos, M. H.; Parker, C. C.; Detera-Wadleigh, S. D.; O'Neill, R. R.; Patterson, M. C.; Goldin, E.; Xiao, H.; Straub, R. E.; Vanier, M. T.; Brady, R. O.; Pentchev, P. G.

In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 90, No. 5, 1993, p. 2002-2004.

Research output: Contribution to journalArticle

Carstea, ED, Polymeropoulos, MH, Parker, CC, Detera-Wadleigh, SD, O'Neill, RR, Patterson, MC, Goldin, E, Xiao, H, Straub, RE, Vanier, MT, Brady, RO & Pentchev, PG 1993, 'Linkage of Niemann-Pick disease type C to human chromosome 18', Proceedings of the National Academy of Sciences of the United States of America, vol. 90, no. 5, pp. 2002-2004.
Carstea ED, Polymeropoulos MH, Parker CC, Detera-Wadleigh SD, O'Neill RR, Patterson MC et al. Linkage of Niemann-Pick disease type C to human chromosome 18. Proceedings of the National Academy of Sciences of the United States of America. 1993;90(5):2002-2004.
Carstea, E. D. ; Polymeropoulos, M. H. ; Parker, C. C. ; Detera-Wadleigh, S. D. ; O'Neill, R. R. ; Patterson, M. C. ; Goldin, E. ; Xiao, H. ; Straub, R. E. ; Vanier, M. T. ; Brady, R. O. ; Pentchev, P. G. / Linkage of Niemann-Pick disease type C to human chromosome 18. In: Proceedings of the National Academy of Sciences of the United States of America. 1993 ; Vol. 90, No. 5. pp. 2002-2004.
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AU - O'Neill, R. R.

AU - Patterson, M. C.

AU - Goldin, E.

AU - Xiao, H.

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AU - Brady, R. O.

AU - Pentchev, P. G.

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