PMID- 7594219
OWN - NLM
STAT- MEDLINE
DCOM- 19951130
LR  - 20181113
IS  - 0391-4097 (Print)
IS  - 0391-4097 (Linking)
VI  - 18
IP  - 5
DP  - 1995 May
TI  - Genetic screening to identify the gene carrier in Italian and German kindreds 
      affected by multiple endocrine neoplasia type 1 (MEN 1) syndrome.
PG  - 329-35
AB  - Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominantly inherited 
      disorder characterized by parathyroid hyperplasia, anterior pituitary adenomas 
      and neoplasms of the endocrine cells of the gastroenteric tract. It has been 
      established that also other tissues exhibit excessive proliferation associated to 
      the MEN 1 syndrome: carcinoids (bronchial and intestinal), lipomas (visceral and 
      cutaneous), thyroid adenomas and goiter, and adrenal gland cortex adenomas. The 
      men 1 gene has been mapped by genetic studies to the long arm of human chromosome 
      11, region q12-13. Genetic analysis of families and tumoral deletion mapping made 
      possible to narrow the men 1 region to a 5 cM interval on chromosome 11q12-13. 
      Thirteen marker complexes (17 DNA probes) were found to be linked to the men 1 
      gene and they span a 14% meiotic recombination with the men 1 locus in the 
      middle. We report a genetic study on 103 subjects from 7 collected MEN 
      1-kindreds, six Italian and one German, including 30 affected individuals. By 
      linkage analysis to 9 DNA markers (10 DNA probes) of the chromosome region where 
      the men 1 gene maps (11q12-13), we identified 10 mutant gene carriers. The 
      predicted MEN 1 diagnosis was clinically confirmed for 2 of these identified 
      carriers. A predictive accuracy of this genetic test can reach up to 99.5% when 
      it is possible to exclude meiotic crossing-over between the analyzed DNA markers 
      and the disease locus.
FAU - Morelli, A
AU  - Morelli A
AD  - Department of Clinical Physiopathology, University of Florence, Italy.
FAU - Falchetti, A
AU  - Falchetti A
FAU - Castello, R
AU  - Castello R
FAU - Furlani, L
AU  - Furlani L
FAU - Tomassetti, P
AU  - Tomassetti P
FAU - Tonelli, F
AU  - Tonelli F
FAU - Frilling, A
AU  - Frilling A
FAU - Serio, M
AU  - Serio M
FAU - Brandi, M L
AU  - Brandi ML
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Italy
TA  - J Endocrinol Invest
JT  - Journal of endocrinological investigation
JID - 7806594
RN  - 0 (Genetic Markers)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adult
MH  - Chromosomes, Human, Pair 11
MH  - DNA/analysis
MH  - Female
MH  - *Genetic Carrier Screening
MH  - Genetic Linkage
MH  - Genetic Markers
MH  - *Genetic Testing
MH  - Germany
MH  - Humans
MH  - Italy
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Mutation
MH  - Pedigree
EDAT- 1995/05/01 00:00
MHDA- 1995/05/01 00:01
CRDT- 1995/05/01 00:00
PHST- 1995/05/01 00:00 [pubmed]
PHST- 1995/05/01 00:01 [medline]
PHST- 1995/05/01 00:00 [entrez]
AID - 10.1007/BF03347833 [doi]
PST - ppublish
SO  - J Endocrinol Invest. 1995 May;18(5):329-35. doi: 10.1007/BF03347833.