PMID- 10051010
OWN - NLM
STAT- MEDLINE
DCOM- 19990512
LR  - 20181113
IS  - 0022-2593 (Print)
IS  - 0022-2593 (Linking)
VI  - 36
IP  - 2
DP  - 1999 Feb
TI  - Mutation screening in British 21-hydroxylase deficiency families and development 
      of novel microsatellite based approaches to prenatal diagnosis.
PG  - 119-24
AB  - 21-hydroxylase deficiency is a recessively inherited disorder of steroidogenesis,
      resulting from mutations in the CYP21 gene. This 3.5 kb gene and a highly related
      CYP21P pseudogene reside on tandemly duplicated 30 kb segments of DNA in the
      class III HLA region, and the great majority of pathogenic mutations result from 
      sequence exchanges involving the duplicated units. We now describe a
      comprehensive survey of CYP21 mutations in the British population, encompassing a
      screen for 17 different mutations in a total of 284 disease chromosomes. The most
      common mutations were as follows: large scale deletions/conversions (45% of the
      affected chromosomes), the intron 2 splice mutation (30.3%), R357W (9.8%), and
      I172N (7.0%). Mutations were detected in over 92% of the chromosomes examined,
      suggesting that accurate DNA based diagnosis is possible in most cases using the 
      described strategy. In order to extend highly accurate prenatal diagnosis to all 
      families where samples are available from a previously affected child, we have
      developed a linkage analysis approach using novel, highly informative
      microsatellite markers from the class III HLA region.
FAU - Lako, M
AU  - Lako M
AD  - Department of Human Genetics, University of Newcastle upon Tyne, UK.
FAU - Ramsden, S
AU  - Ramsden S
FAU - Campbell, R D
AU  - Campbell RD
FAU - Strachan, T
AU  - Strachan T
LA  - eng
GR  - Wellcome Trust/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - J Med Genet
JT  - Journal of medical genetics
JID - 2985087R
RN  - 0 (DNA Primers)
RN  - 0 (HLA Antigens)
RN  - EC 1.14.14.16 (Steroid 21-Hydroxylase)
SB  - IM
MH  - *Adrenal Hyperplasia, Congenital/genetics
MH  - Blotting, Southern
MH  - DNA Primers
MH  - Female
MH  - Gene Deletion
MH  - Genotype
MH  - HLA Antigens/genetics
MH  - Humans
MH  - Male
MH  - Microsatellite Repeats
MH  - Point Mutation
MH  - *Prenatal Diagnosis
MH  - Steroid 21-Hydroxylase/*genetics
MH  - United Kingdom
PMC - PMC1734295
EDAT- 1999/03/02 00:00
MHDA- 1999/03/02 00:01
CRDT- 1999/03/02 00:00
PHST- 1999/03/02 00:00 [pubmed]
PHST- 1999/03/02 00:01 [medline]
PHST- 1999/03/02 00:00 [entrez]
PST - ppublish
SO  - J Med Genet. 1999 Feb;36(2):119-24.