[Multiplex quantitative PCR detection for female carrier in an X-linked ichthyosis family].
OBJECTIVE
To analyze the pathogenic mutation of an X-linked ichthyosis (XLI) family, and identify the genetic diagnosis of three probable female carriers in this family. To evaluate the availability of different detect methods for steroid sulfatase (STS) gene mutation.


METHODS
Peripheral blood samples were collected from the family, including the proband, proband's mother, younger sister, and younger female cousin, and 10 males and 10 females as controls. Ordinary PCR was used to detect whether there was STS gene deletion in the male proband. Then, multiplex quantitative fluorescent PCR (QF-PCR) was used to detect the STS gene in the proband and his 3 female family members. Fluorescence in situ hybridization (FISH) was used to authenticate the results of multiplex QF-PCR method.


RESULTS
No amplified product of the exons 1-10 of STS gene deletion was detected by ordinary PCR in the proband. The proband's mother was diagnosed as a carrier, but his sister and cousin were diagnosed as normal females by multiplex QF-PCR. FISH confirmed the results of multiplex QF-PCR.


CONCLUSIONS
Both multiplex QF-PCR and FISH are effective to detect the complete deletion mutation of STS gene and identify the female carrier, and multiplex QF-PCR is more convenient and automatic compared with FISH.
Zhu
Hai-yan
HY
Prenatal Diagnosis Center, Drum Tower Hospital, Medical School of Nanjing University, Nanjing 210008, China.
Li
Hai-bo
HB
Wu
Ling-qian
LQ
Zhu
Xiang-yu
XY
Li
Jie
J
Yang
Ying
Y
Zhu
Rui-fang
RF
Wu
Xing
X
Duan
Hong-lei
HL
Zhang
Ying
Y
Hu
Ya-li
YL
D000328:Adult; D005091:Exons; D005260:Female; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000175:diagnosis* / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D043266:Steryl-Sulfatase / Q000235:genetics
D043266:Steryl-Sulfatase