PMID- 10521306
OWN - NLM
STAT- MEDLINE
DCOM- 19991210
LR  - 20181113
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 65
IP  - 5
DP  - 1999 Nov
TI  - An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p.
PG  - 1401-5
AB  - The increasing number of diagnosed cases of inherited thrombocytopenias, owing to
      the routine practice of including platelet counts in blood tests, suggests that
      this condition is not so rare as expected. In the majority of cases, the
      molecular basis of the disease is unknown, although the defect is likely to
      affect thrombocytopoiesis and regulation of the normal platelet count. Here we
      report a genomewide search in a large Italian family affected by autosomal
      dominant thrombocytopenia. Patients showed a moderate thrombocytopenia with
      minimal symptoms characterized by normocellular bone marrow, normal medium
      platelet volume, and positive aggregation tests. Microsatellite analysis
      demonstrated that the disease locus (THC2) is linked to chromosome 10p11.1-12,
      within a candidate region of 6 cM between markers D10S586 and D19S1639. A maximum
      LOD score of 8.12 at recombination fraction.00 was obtained with the
      microsatellite D10S588. These data localized the first locus of an autosomal
      dominant thrombocytopenia, and the subsequent identification of the gene will
      provide new insight into the basic mechanism of megakaryocytopoiesis disorders.
FAU - Savoia, A
AU  - Savoia A
AD  - Medical Genetic Service, I.R.C.C.S. Casa Sollievo della Sofferenza Hospital, San 
      Giovanni Rotondo, Foggia, Italy. genetcss@fg.nettuno.it
FAU - Del Vecchio, M
AU  - Del Vecchio M
FAU - Totaro, A
AU  - Totaro A
FAU - Perrotta, S
AU  - Perrotta S
FAU - Amendola, G
AU  - Amendola G
FAU - Moretti, A
AU  - Moretti A
FAU - Zelante, L
AU  - Zelante L
FAU - Iolascon, A
AU  - Iolascon A
LA  - eng
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
SB  - IM
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 10/*genetics
MH  - Female
MH  - Genes, Dominant
MH  - Genotype
MH  - Haplotypes
MH  - Humans
MH  - Italy
MH  - Lod Score
MH  - Male
MH  - Microsatellite Repeats
MH  - Pedigree
MH  - Thrombocytopenia/*genetics
PMC - PMC1288293
EDAT- 1999/10/16 09:00
MHDA- 2000/03/21 09:00
CRDT- 1999/10/16 09:00
PHST- 1999/10/16 09:00 [pubmed]
PHST- 2000/03/21 09:00 [medline]
PHST- 1999/10/16 09:00 [entrez]
AID - S0002-9297(07)62147-8 [pii]
AID - 10.1086/302637 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 Nov;65(5):1401-5. doi: 10.1086/302637.