PMID- 9922473
OWN - NLM
STAT- MEDLINE
DCOM- 19990420
LR  - 20101118
IS  - 0025-7680 (Print)
IS  - 0025-7680 (Linking)
VI  - 58
IP  - 5 Pt 1
DP  - 1998
TI  - [Molecular diagnosis in an Argentinian family with multiple endocrine neoplasia 
      type-1 (MEN-1)].
PG  - 441-5
AB  - MEN-1 is a hereditary autosomal dominant syndrome characterized by the 
      involvement of parathyroid glands, pancreatic islet cells and anterior pituitary 
      gland. Today molecular genetics permit gene carrier analysis to compare the data 
      obtained with the clinical biochemical tests. The twenty living members of the 
      first, second and third generation of a family with MEN-1 were studied to 
      determine the presence of genetic markers in MEN-1 loci 11q13, by linkage 
      analysis and in affected individuals by biochemical tests and clinical 
      examination. Two very informative polymorphic markers immediately flanking the 
      MEN-1 gene on chromosome 11 band q13 were detected: PYGM and D11S987, haplotypes 
      segregated by two members of the second generation, inherited from their father 
      and two of the third generation: the affected one and one presymptomatic. The 
      third generation had the affected member with renal stones and elevated PTH, PRL 
      and glucagon. The presymptomatic carrier of MEN-1 allele showed elevated PTH. 
      Among the members who inherited the normal allele we found one with elevated 
      gastrin, one with elevated glucagon and one with elevated PTH, all asymptomatic. 
      Of one Argentine family studied, molecular diagnosis allowed us to detect one 
      presymptomatic carrier in the members at risk. As suggested by the available 
      literature, accuracy of molecular diagnosis seems to make it the test of choice 
      to exclude those members at risk for MEN-1 inheriting the normal allele.
FAU - Guadagna, M
AU  - Guadagna M
AD  - Servicio de Endocrinologia, Hospital Nacional Alejandro Posadas, Ramos Mejia, 
      Buenos Aires, Argentina.
FAU - Migliano, M
AU  - Migliano M
FAU - Herrera, J
AU  - Herrera J
FAU - Rodriguez, P
AU  - Rodriguez P
FAU - Sciorra, J
AU  - Sciorra J
FAU - Alfieri, A
AU  - Alfieri A
FAU - Corino, M
AU  - Corino M
FAU - Costa, L
AU  - Costa L
FAU - Karothy, B
AU  - Karothy B
FAU - Ortiz, J
AU  - Ortiz J
FAU - Tarruella, M
AU  - Tarruella M
LA  - spa
PT  - English Abstract
PT  - Journal Article
TT  - Diagnostico molecular de neoplasia endocrina multiple tipo 1 (MEN-1) en una 
      familia Argentina afectada.
PL  - Argentina
TA  - Medicina (B Aires)
JT  - Medicina
JID - 0204271
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Argentina
MH  - Chromosomes, Human, Pair 11
MH  - Female
MH  - Genetic Linkage
MH  - Genetic Markers
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*diagnosis/genetics
MH  - Pedigree
EDAT- 1999/01/29 00:00
MHDA- 1999/01/29 00:01
CRDT- 1999/01/29 00:00
PHST- 1999/01/29 00:00 [pubmed]
PHST- 1999/01/29 00:01 [medline]
PHST- 1999/01/29 00:00 [entrez]
PST - ppublish
SO  - Medicina (B Aires). 1998;58(5 Pt 1):441-5.