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

Eugene D. Carstea | Zendy; M H Polymeropoulos | Zendy; Clarissa C. Parker | Zendy; Sevilla D. DeteraWadleigh | Zendy; Roisin O’Neill | Zendy; Marc C. Patterson | Zendy; Ehud Goldin | Zendy; Hua Xiao | Zendy; Richard E. Straub | Zendy; M. T. Vanier | Zendy

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

Author(s) -

Eugene D. Carstea,

M H Polymeropoulos,

Clarissa C. Parker,

Sevilla D. DeteraWadleigh,

Roisin O’Neill,

Marc C. Patterson,

Ehud Goldin,

Hua Xiao,

Richard E. Straub,

M. T. Vanier

Publication year - 1993

Publication title -

proceedings of the national academy of sciences

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 5.011

H-Index - 771

eISSN - 1091-6490

pISSN - 0027-8424

DOI - 10.1073/pnas.90.5.2002

Subject(s) - genetics , biology , chromosome , microsatellite , genetic linkage , allele , genetic marker , gene

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.

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