PMID- 9509445
OWN - NLM
STAT- MEDLINE
DCOM- 19980504
LR  - 20190512
IS  - 0931-0509 (Print)
IS  - 0931-0509 (Linking)
VI  - 13
IP  - 2
DP  - 1998 Feb
TI  - Structural analysis of gene marker loci on chromosomes 10 and 11 in primary and 
      secondary uraemic hyperparathyroidism.
PG  - 350-7
AB  - BACKGROUND: The genetic molecular anomalies in patients with primary (I degree) 
      and secondary (II degree) hyperparathyroidism (HPTH) are still largely unknown. 
      In particular, the changes underlying monoclonal growth in the parathyroids of 
      patients with II degree HPTH are not well understood. METHODS: We screened 
      genomic DNA from a total of 30 patients with I degree HPTH and 29 patients with 
      II degree uraemic HPTH for possible rearrangements or allelic losses of several 
      gene markers located on chromosome 11p near the PTH gene, namely Ha-ras, IGF-2, 
      WT1, and the PTH gene itself. In addition, two other gene markers, PRAD1 
      (localized on 11q13) and RET (localized on 10q11) were examined for possible 
      structural alterations. Moreover, we used fluorescence in situ hybridization 
      (FISH) which is another technique to detect numerical alterations of chromosome 
      11. RESULTS: The results show that one of 13 patients with I degree HPTH (8%) 
      exhibited a rearrangement for the PRAD-1 gene. Loss of heterozygosity of Ha-ras 
      locus was observed in one of 11 uraemic patients with II degree HPTH (9%). Three 
      of 10 patients with I degree HPTH (30%) and one of 7 patients with II degree HPTH 
      (14%) showed an allelic loss of the WT1 gene. No evidence of rearrangement or 
      allelic loss was detected for the IGF-2, PTH or RET genes respectively. Using 
      FISH method, three normal parathyroid gland, six I degree HPTH adenomas and eight 
      II degree HPTH hyperplastic glands from uraemic patients were studied with 
      centromeric probe for chromosome 11. Monosomy 11 was observed in one case of I 
      degree HPTH and in one other case of II degree HPTH. CONCLUSION: Evidence of loss 
      of heterozygosity for several genes located on human chromosome 11p has been 
      found in a series of parathyroid glands from several patients with I degree and 
      II degree uraemic HPTH, corresponding to monosomy of chromosome 11 in some cases.
FAU - Inagaki, C
AU  - Inagaki C
AD  - Inserm Unite 90 and Departement de Nephrologie, Hopital Necker, Paris, France.
FAU - Dousseau, M
AU  - Dousseau M
FAU - Pacher, N
AU  - Pacher N
FAU - Sarfati, E
AU  - Sarfati E
FAU - Drueke, T B
AU  - Drueke TB
FAU - Gogusev, J
AU  - Gogusev J
LA  - eng
PT  - Journal Article
PL  - England
TA  - Nephrol Dial Transplant
JT  - Nephrology, dialysis, transplantation : official publication of the European 
      Dialysis and Transplant Association - European Renal Association
JID - 8706402
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Blotting, Southern
MH  - *Chromosome Mapping
MH  - *Chromosomes, Human, Pair 10
MH  - *Chromosomes, Human, Pair 11
MH  - Gene Deletion
MH  - Gene Rearrangement/genetics
MH  - Genetic Markers
MH  - Humans
MH  - Hyperparathyroidism/*complications
MH  - In Situ Hybridization, Fluorescence
MH  - Loss of Heterozygosity/genetics
MH  - Middle Aged
MH  - Uremia/*etiology/*genetics
EDAT- 1998/03/24 00:00
MHDA- 1998/03/24 00:01
CRDT- 1998/03/24 00:00
PHST- 1998/03/24 00:00 [pubmed]
PHST- 1998/03/24 00:01 [medline]
PHST- 1998/03/24 00:00 [entrez]
AID - 10.1093/oxfordjournals.ndt.a027829 [doi]
PST - ppublish
SO  - Nephrol Dial Transplant. 1998 Feb;13(2):350-7. doi: 
      10.1093/oxfordjournals.ndt.a027829.