title: Absence of linkage of hereditary motor and sensory neuropathy type I to chromosome 1 markers.
abstract: Although one large family with hereditary motor and sensory neuropathy (HMSN) type I that showed linkage to the Duffy blood group (FY) on chromosome 1 has previously been reported, we have failed to find evidence for such linkage after examining 14 markers from chromosome 1 in 12 pedigrees. We have excluded linkage between HMSN I and FY up to theta = 0.15 (lod = -3.01) and also between HMSN I and markers flanking FY; amylase (AMY), polymorphic urinary mucin (PUM), serum amyloid protein (APCS), and alpha-spectrin (SPTA). We have excluded HMSN I from 70 cM around this linkage group. Other markers examined were MS1, oncogene L-myc (MYCL), beta-subunit of nerve growth factor (NGFB), oncogene N-ras (NRAS), glucocerebrosidase (GBA), apolipoprotein AII (APOA2), antithrombin III (AT3), renin (REN), and MS32. These cover both the long and the short arms of chromosome 1 in addition to the centromeric region and yielded no evidence of linkage to HMSN I. Two-point lod scores between these markers are also presented. It is possible that there are two or more loci for HMSN I and it will be necessary to obtain significant lod scores from individual families to resolve this issue. This is increasingly possible now that hypervariable genetic markers such as PUM are available.
authors.affiliation: Mothercare Department of Paediatric Genetics, Institute of Child Health, London, United Kingdom.
authors.forename: H R
authors.initials: HR
authors.lastname: Middleton-Price
authors.forename: A E
authors.initials: AE
authors.lastname: Harding
authors.forename: J
authors.initials: J
authors.lastname: Berciano
authors.forename: J M
authors.initials: JM
authors.lastname: Pastor
authors.forename: S M
authors.initials: SM
authors.lastname: Huson
authors.forename: S
authors.initials: S
authors.lastname: Malcolm
mesh_terms: D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D004375:Duffy Blood-Group System / Q000235:genetics; D008040:Genetic Linkage; D005819:Genetic Markers; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male
chemical_list: D004375:Duffy Blood-Group System; D005819:Genetic Markers