[Identification of mutations in the human EXT1 and EXT2 genes].
OBJECTIVE
To investigate further the genetic basis of hereditary multiple exostoses (EXT) and provide useful information for gene diagnosis of the disease.


METHODS
Polymerase chain reaction-single strand conformation polymorphism was used to examine the entire coding regions of EXT(1) gene on chromosome 8 and EXT(2) gene on chromosome 11 for mutation in thirty EXT families. Mutations were further identified by sequencing.


RESULTS
Two frameshift mutations were identified in two unrelated EXT families. One was the deletion of one base(T) in exon 6 of the EXT(1) gene, and the other was the deletion of four bases (tgtt) in exon 2 of the EXT(2) gene. Both of the mutations resulted in a frameshift and premature termination of translation.


CONCLUSIONS
EXT is a genetically heterogeneous bone disorder caused by the mutation of EXT tumor suppressor gene. These results could be directly applied in the genetic counseling and prenatal genetic diagnosis of EXT.
Song
G
G
The Affiliated Xiangya Hospital, Hunan Medical University, Changsha, 410078 P.R.China. wyxsgq@public.cs.hn.cn
Zhou
J
J
Xia
J
J
Deng
H
H
Xu
L
L
Ruan
Q
Q
D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D002898:Chromosomes, Human, Pair 8; D005097:Exostoses, Multiple Hereditary / Q000175:diagnosis / Q000235:genetics*; D016368:Frameshift Mutation; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational