[Prenatal diagnosis of achondroplasia].
OBJECTIVE
To diagnose achondroplasia prenatally by FGFR3 gene detection.


METHODS
Seventy-eight fetuses affected by short-limb dysplasias were recruited. Umbilical blood sampling was employed to obtain fetal blood for karyotyping and FGFR3 gene detection. Genomic DNA was extracted, and the exon 10 of the FGFR3 gene was amplified. PCR amplicons were analyzed by DNA sequencing and restriction fragment length polymorphism with Bfm I. The FGFR3 exon 10 from the parents of the positive fetuses was screened by the same method.


RESULTS
In 78 fetuses affected with short-limb dysplasias, 8 cases had G1138A heterozygotic mutation and normal karyotype, and were diagnosed as achondroplasia. The other 70 fetuses had normal nucleotide at nucleotide 1138 in exon 10 of FGFR3, therefore were excluded from achondroplasia. Only one father in parents of the 8 achondroplasia fetuses also had the G1138A mutation.


CONCLUSIONS
Achondroplasia could be diagnosed prenatally in the fetuses affected with short-limb dysplasias by using PCR-RFLP and DNA sequencing of the exon 10 of the FGFR3 gene.
Huang
Xuan
X
Department of Obstetrics and Gynecology, the First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, 510080 People's Republic of China.
Huang
Lin-huan
LH
Fang
Qun
Q
Chen
Min-ling
ML
Zhou
Yi
Y
Cai
Jian
J
Chen
Bao-jiang
BJ
Chen
Jun-hong
JH
D000130:Achondroplasia / Q000175:diagnosis* / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*
D051498:Receptor, Fibroblast Growth Factor, Type 3