PMID- 7557957
OWN - NLM
STAT- MEDLINE
DCOM- 19951120
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 96
IP  - 4
DP  - 1995 Oct
TI  - Mapping eight new polymorphisms in 11q13 in the vicinity of multiple endocrine 
      neoplasia type 1: identification of a new distal recombinant.
PG  - 377-87
AB  - Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant disorder 
      that predisposes affected individuals to neoplasms of the parathyroid glands, 
      endocrine pancreas, anterior pituitary, and carcinoids. The MEN1 locus has been 
      localized by family studies to 11q13, flanked by markers PGA and D11S97. Eight 
      new polymorphisms located in three separate radiation-reduced somatic cell hybrid 
      segregation groups were developed. The order of the new markers, within the 
      context of previously described loci, was determined by linkage analysis on the 
      Venezuelan reference pedigree. Four independent MEN1 families, consisting of 57 
      affected individuals, and 70 individuals at-risk for the disease were genotyped. 
      Sixteen people inherited a chromosome that shows recombination between a linked 
      marker and the disease. The nearest proximal and distal markers that show 
      recombination with the disease are D11S822 and GSTP1, respectively, thereby 
      narrowing the candidate region for MEN1 by 50% on the distal side. Using these 
      loci in haplotype analysis, an accurate presymptomatic molecular diagnostic test 
      has been developed. These new markers in 11q13 linked to MEN1 also facilitate the 
      genetic and physical characterization of this very gene-rich region.
FAU - Smith, C M
AU  - Smith CM
AD  - Department of Genetics, Washington University School of Medicine, St. Louis, MO 
      63110, USA.
FAU - Wells, S A
AU  - Wells SA
FAU - Gerhard, D S
AU  - Gerhard DS
LA  - eng
GR  - 5-P32-HG0001002/HG/NHGRI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (DNA Probes)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Mapping
MH  - *Chromosomes, Human, Pair 11
MH  - DNA Probes
MH  - Female
MH  - Genetic Linkage
MH  - Humans
MH  - Infant
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Pedigree
MH  - *Polymorphism, Genetic
MH  - Recombination, Genetic
EDAT- 1995/10/01 00:00
MHDA- 1995/10/01 00:01
CRDT- 1995/10/01 00:00
PHST- 1995/10/01 00:00 [pubmed]
PHST- 1995/10/01 00:01 [medline]
PHST- 1995/10/01 00:00 [entrez]
AID - 10.1007/BF00191793 [doi]
PST - ppublish
SO  - Hum Genet. 1995 Oct;96(4):377-87. doi: 10.1007/BF00191793.