PMID- 11341187
OWN - NLM
STAT- MEDLINE
DCOM- 20010521
LR  - 20161124
IS  - 0017-7768 (Print)
IS  - 0017-7768 (Linking)
VI  - 139
IP  - 11-12
DP  - 2000 Dec
TI  - [A molecular method of diagnosis of congenital adrenal hyperplasia].
PG  - 429-33, 494
AB  - Congenital adrenal hyperplasia (CAH) is caused mainly by deficiency of the 
      21-hydroxylase enzyme. The disease may appear in the classical salt-losing, 
      simple virilizing forms or as a mild, nonclassical form. 21-hydroxylase is 
      encoded by the CYP21B gene on the short arm of chromosome 6, in the midst of the 
      human leukocyte antigen (HLA) complex, between HLA Class I and Class II regions. 
      We describe a method for identifying mutations in the CYP21B gene. It is based on 
      amplification of the gene using the polymerase chain reaction and identification 
      of mutations with sequence-specific oligo-probes. The mutations identified were: 
      V281 and P30L responsible for nonclassical CAH, and 12 splice, Q318X, I172N, 
      cluster E6, and a deletion including 8bP in the third exon (8bP del) responsible 
      for the classical form of CAH. We also analyzed 2 families affected with the 
      classical form of CAH which demonstrate possible complications in genotyping. 
      Typing for HLA haplotypes can be helpful in certain cases, as demonstrated in 1 
      of the families presented. In this case it was necessary to distinguish between 2 
      possible genotypes: 1 with the mutations in tandem on 1 chromosome and the other 
      with the mutated genes on both chromosomes. HLA haplotyping enabled the 
      assignment of the mutations to the relevant chromosomes and thus allowed correct 
      genetic counseling. The other family demonstrated the importance of CYP21B 
      genotyping in individuals with the nonclassical form of CAH. This form may 
      consist of 1 mild and 1 severe mutation, representing a serious potential for 
      transmitting the classical form of CAH.
FAU - Israel, S
AU  - Israel S
AD  - Tissue Typing Unit, Hadassah Medical Center, Jerusalem.
FAU - Brautbar, C
AU  - Brautbar C
LA  - heb
PT  - Journal Article
PL  - Israel
TA  - Harefuah
JT  - Harefuah
JID - 0034351
RN  - EC 1.14.14.16 (Steroid 21-Hydroxylase)
SB  - IM
MH  - Adrenal Hyperplasia, Congenital/*diagnosis/enzymology/*genetics
MH  - Alternative Splicing
MH  - Amino Acid Substitution
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 6
MH  - Female
MH  - Humans
MH  - Male
MH  - *Mutation
MH  - Pedigree
MH  - Point Mutation
MH  - Polymerase Chain Reaction/methods
MH  - Sequence Deletion
MH  - Steroid 21-Hydroxylase/*genetics
EDAT- 2001/05/09 10:00
MHDA- 2001/05/25 10:01
CRDT- 2001/05/09 10:00
PHST- 2001/05/09 10:00 [pubmed]
PHST- 2001/05/25 10:01 [medline]
PHST- 2001/05/09 10:00 [entrez]
PST - ppublish
SO  - Harefuah. 2000 Dec;139(11-12):429-33, 494.