PMID- 10441585
OWN - NLM
STAT- MEDLINE
DCOM- 19991004
LR  - 20190515
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 65
IP  - 3
DP  - 1999 Sep
TI  - Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of
      founder haplotypes.
PG  - 773-8
AB  - Mucolipidosis type IV (MLIV) is a lysosomal storage disorder characterized by
      severe neurologic and ophthalmologic abnormalities. It is a rare autosomal
      recessive disease, and the majority of patients diagnosed, to date, are of
      Ashkenazi Jewish descent. We have mapped the MLIV gene to chromosome 19p13.2-13.3
      by linkage analysis with 15 markers in 13 families. A maximum LOD score of 5.51
      with no recombinants was observed with marker D19S873. Several markers in the
      linked interval also displayed significant linkage disequilibrium with the
      disorder. We constructed haplotypes in 26 Ashkenazi Jewish families and
      demonstrate the existence of two founder chromosomes in this population. The
      localization of MLIV to chromosome 19 will permit genetic prenatal diagnosis in
      affected families and will aid in the isolation of the disease gene.
FAU - Slaugenhaupt, S A
AU  - Slaugenhaupt SA
AD  - Harvard Institute of Human Genetics, Harvard Medical School, Boston, MA 02115,
      USA. slaugenhaupt@helix.mgh.harvard.edu
FAU - Acierno, J S Jr
AU  - Acierno JS Jr
FAU - Helbling, L A
AU  - Helbling LA
FAU - Bove, C
AU  - Bove C
FAU - Goldin, E
AU  - Goldin E
FAU - Bach, G
AU  - Bach G
FAU - Schiffmann, R
AU  - Schiffmann R
FAU - Gusella, J F
AU  - Gusella JF
LA  - eng
GR  - NS36326/NS/NINDS 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  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (Genetic Markers)
SB  - IM
MH  - *Chromosome Mapping
MH  - Chromosomes, Human, Pair 19/*genetics
MH  - Female
MH  - *Founder Effect
MH  - Genes, Recessive
MH  - Genetic Markers
MH  - Genotype
MH  - Haplotypes/*genetics
MH  - Humans
MH  - Jews/genetics
MH  - Linkage Disequilibrium
MH  - Lod Score
MH  - Male
MH  - Mucolipidoses/*genetics
MH  - Pedigree
MH  - Recombination, Genetic
PMC - PMC1377985
EDAT- 1999/08/12 10:00
MHDA- 2000/03/21 09:00
CRDT- 1999/08/12 10:00
PHST- 1999/08/12 10:00 [pubmed]
PHST- 2000/03/21 09:00 [medline]
PHST- 1999/08/12 10:00 [entrez]
AID - S0002-9297(07)62330-1 [pii]
AID - 10.1086/302549 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 Sep;65(3):773-8. doi: 10.1086/302549.