PMID- 8775525
OWN - NLM
STAT- MEDLINE
DCOM- 19961205
LR  - 20190826
IS  - 0004-8291 (Print)
IS  - 0004-8291 (Linking)
VI  - 26
IP  - 1
DP  - 1996 Feb
TI  - Predictive diagnosis of multiple endocrine neoplasia (MEN 1) in four Australian 
      kindreds.
PG  - 27-32
AB  - BACKGROUND: Multiple endocrine neoplasia type 1 (MEN 1) is a tumour 
      predisposition syndrome that usually manifests in the first four decades of life. 
      It has an autosomal dominant mode of inheritance which means that any new member 
      of a MEN1 kindred has roughly a 50% chance of developing the disorder during 
      their lifetime. The localisation of the MEN1 gene to a small region of chromosome 
      band 11q13 has led to the development of DNA-based predictive diagnosis for this 
      disease. AIMS: To establish a polymerase chain reaction (PCR)-based system, using 
      simple tandem repeat polymorphisms (STRPs), to predict gene carriers in four 
      Australian MEN 1 kindreds. METHODS: Six STRP markers flanking the MEN1 region of 
      chromosome band 11q13 were used to screen individuals for a common haplotype in 
      order to determine carrier status. RESULTS: The accuracy of prediction was 
      calculated to be > 95% in informative individuals. CONCLUSIONS: DNA-based 
      presymptomatic detection of affected members of MEN 1 kindreds could facilitate 
      their care and reduce the inconvenience and expense of repeated testing of 
      unaffected members. However, due to occasional recombination events or 
      uninformativeness of markers in certain individuals, carrier status cannot always 
      be predicted.
FAU - Grimmond, S M
AU  - Grimmond SM
AD  - Joint Experimental Oncology Program, Queensland Institute of Medical Research, 
      Herston.
FAU - Teh, B T
AU  - Teh BT
FAU - Hii, S I
AU  - Hii SI
FAU - Cardinal, J
AU  - Cardinal J
FAU - Walters, M
AU  - Walters M
FAU - Epstein, M
AU  - Epstein M
FAU - Edwards, M
AU  - Edwards M
FAU - Hockey, A
AU  - Hockey A
FAU - Pullan, P T
AU  - Pullan PT
FAU - Perry-Keene, D
AU  - Perry-Keene D
FAU - Boyages, S
AU  - Boyages S
FAU - Cameron, D
AU  - Cameron D
FAU - Hayward, N K
AU  - Hayward NK
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Australia
TA  - Aust N Z J Med
JT  - Australian and New Zealand journal of medicine
JID - 1264322
SB  - IM
MH  - Adult
MH  - Autoradiography
MH  - Chromosomes, Human, Pair 11/genetics
MH  - Female
MH  - Genetic Carrier Screening/*methods
MH  - Haplotypes
MH  - Humans
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Pedigree
MH  - *Polymerase Chain Reaction
MH  - *Repetitive Sequences, Nucleic Acid/genetics
EDAT- 1996/02/01 00:00
MHDA- 1996/02/01 00:01
CRDT- 1996/02/01 00:00
PHST- 1996/02/01 00:00 [pubmed]
PHST- 1996/02/01 00:01 [medline]
PHST- 1996/02/01 00:00 [entrez]
AID - 10.1111/j.1445-5994.1996.tb02903.x [doi]
PST - ppublish
SO  - Aust N Z J Med. 1996 Feb;26(1):27-32. doi: 10.1111/j.1445-5994.1996.tb02903.x.