PMID- 9215307
OWN - NLM
STAT- MEDLINE
DCOM- 19970807
LR  - 20061115
IS  - 0021-972X (Print)
IS  - 0021-972X (Linking)
VI  - 82
IP  - 7
DP  - 1997 Jul
TI  - Allelic loss in parathyroid tumors from individuals homozygous for multiple 
      endocrine neoplasia type 1.
PG  - 2278-82
AB  - Homozygosity for the multiple endocrine neoplasia type 1 (MEN1) gene mutation was 
      described in two of three affected siblings of a kindred in which both parents 
      and the third daughter were heterozygotes. Surprisingly, in the two homozygotes, 
      the disease history did not differ from the one of the heterozygotes. In the 
      attempt to unravel genetic differences in parathyroid tumorigenesis between 
      homozygotes and heterozygotes, restriction fragment length polymorphism analysis 
      and microsatellite PCR analysis for loss of heterozygosity (LOH) at the MEN1 gene 
      region on chromosome 11q13 was performed in parathyroid tissues removed at 
      surgery from the mother, her heterozygous sister, and the three siblings. Allelic 
      losses were evidenced in the larger glands of each patient, with a similar 
      pattern of chromosome 11q12-13 losses. The somatic mutation consisted of a large 
      lose of genetic material from chromosome 11. No gross differences exist in the 
      11q12-13 LOH observed between homozygous and heterozygous carriers. 
      Interestingly, one of the parathyroid tumors from one heterozygote exhibited 
      region of skipped LOH at the 11q12-13 region. The region in the depth of the 
      critical interval retained heterozygosity, whereas those flanking it shared LOH. 
      These findings indicate that inactivation of both copies of the MEN1 gene are not 
      sufficient for parathyroid tumor development in MEN 1 patients and that tumor 
      suppressor genes, other than the MEN1 gene on chromosome 11 or on other 
      chromosomes, can be involved in the pathogenesis of parathyroid tumorigenesis in 
      MEN 1 syndrome.
FAU - Falchetti, A
AU  - Falchetti A
AD  - Endocrinology Unit, University of Florence, Italy.
FAU - Morelli, A
AU  - Morelli A
FAU - Amorosi, A
AU  - Amorosi A
FAU - Tonelli, F
AU  - Tonelli F
FAU - Fabiani, S
AU  - Fabiani S
FAU - Martineti, V
AU  - Martineti V
FAU - Castello, R
AU  - Castello R
FAU - Furlani, L
AU  - Furlani L
FAU - Brandi, M L
AU  - Brandi ML
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Clin Endocrinol Metab
JT  - The Journal of clinical endocrinology and metabolism
JID - 0375362
SB  - IM
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 11
MH  - Female
MH  - Heterozygote
MH  - Humans
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/*genetics/pathology
MH  - Parathyroid Neoplasms/*genetics/pathology
MH  - Pedigree
MH  - Polymorphism, Restriction Fragment Length
EDAT- 1997/07/01 00:00
MHDA- 1997/07/01 00:01
CRDT- 1997/07/01 00:00
PHST- 1997/07/01 00:00 [pubmed]
PHST- 1997/07/01 00:01 [medline]
PHST- 1997/07/01 00:00 [entrez]
AID - 10.1210/jcem.82.7.4042 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 1997 Jul;82(7):2278-82. doi: 10.1210/jcem.82.7.4042.