PMID- 10205270
OWN - NLM
STAT- MEDLINE
DCOM- 19990520
LR  - 20181113
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 64
IP  - 5
DP  - 1999 May
TI  - Juvenile hemochromatosis locus maps to chromosome 1q.
PG  - 1388-93
AB  - Juvenile hemochromatosis (JH) is an autosomal recessive disorder that leads to
      severe iron loading in the 2d to 3d decade of life. Affected members in families 
      with JH do not show linkage to chromosome 6p and do not have mutations in the HFE
      gene that lead to the common hereditary hemochromatosis. In this study we
      performed a genomewide search to map the JH locus in nine families: six
      consanguineous and three with multiple affected patients. This strategy allowed
      us to identify the JH locus on the long arm of chromosome 1. A maximum LOD score 
      of 5.75 at a recombination fraction of 0 was detected with marker D1S498, and a
      LOD score of 5. 16 at a recombination fraction of 0 was detected for marker
      D1S2344. Homozygosity mapping in consanguineous families defined the limits of
      the candidate region in an approximately 4-cM interval between markers D1S442 and
      D1S2347. Analysis of genes mapped in this interval excluded obvious candidates.
      The JH locus does not correspond to the chromosomal localization of any known
      gene involved in iron metabolism. These findings provide a means to recognize, at
      an early age, patients in affected families. They also provide a starting point
      for the identification of the affected gene by positional cloning.
FAU - Roetto, A
AU  - Roetto A
AD  - Dipartimento di Scienze Cliniche e Biologiche, Universita di Torino, Torino,
      Italy.
FAU - Totaro, A
AU  - Totaro A
FAU - Cazzola, M
AU  - Cazzola M
FAU - Cicilano, M
AU  - Cicilano M
FAU - Bosio, S
AU  - Bosio S
FAU - D'Ascola, G
AU  - D'Ascola G
FAU - Carella, M
AU  - Carella M
FAU - Zelante, L
AU  - Zelante L
FAU - Kelly, A L
AU  - Kelly AL
FAU - Cox, T M
AU  - Cox TM
FAU - Gasparini, P
AU  - Gasparini P
FAU - Camaschella, C
AU  - Camaschella C
LA  - eng
GR  - E.0679/Telethon/Italy
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (Antigens, CD1)
RN  - 0 (Antigens, CD1d)
RN  - 0 (CD1D protein, human)
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Antigens, CD1/genetics
MH  - Antigens, CD1d
MH  - *Chromosome Mapping
MH  - Chromosomes, Human, Pair 1/*genetics
MH  - Consanguinity
MH  - Female
MH  - Genetic Markers
MH  - Haplotypes/genetics
MH  - Hemochromatosis/*genetics
MH  - Humans
MH  - Lod Score
MH  - Male
MH  - Pedigree
PMC - PMC1377875
EDAT- 1999/04/17 02:14
MHDA- 2000/03/21 09:00
CRDT- 1999/04/17 02:14
PHST- 1999/04/17 02:14 [pubmed]
PHST- 2000/03/21 09:00 [medline]
PHST- 1999/04/17 02:14 [entrez]
AID - S0002-9297(07)62284-8 [pii]
AID - 10.1086/302379 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 May;64(5):1388-93. doi: 10.1086/302379.