PMID- 19159546
OWN - NLM
STAT- MEDLINE
DCOM- 20090611
LR  - 20090122
IS  - 0376-2491 (Print)
IS  - 0376-2491 (Linking)
VI  - 88
IP  - 46
DP  - 2008 Dec 16
TI  - [Multiplex quantitative PCR detection for female carrier in an X-linked 
      ichthyosis family].
PG  - 3246-9
AB  - 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. CONCLUSION: 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.
FAU - Zhu, Hai-yan
AU  - Zhu HY
AD  - Prenatal Diagnosis Center, Drum Tower Hospital, Medical School of Nanjing 
      University, Nanjing 210008, China.
FAU - Li, Hai-bo
AU  - Li HB
FAU - Wu, Ling-qian
AU  - Wu LQ
FAU - Zhu, Xiang-yu
AU  - Zhu XY
FAU - Li, Jie
AU  - Li J
FAU - Yang, Ying
AU  - Yang Y
FAU - Zhu, Rui-fang
AU  - Zhu RF
FAU - Wu, Xing
AU  - Wu X
FAU - Duan, Hong-lei
AU  - Duan HL
FAU - Zhang, Ying
AU  - Zhang Y
FAU - Hu, Ya-li
AU  - Hu YL
LA  - chi
PT  - Controlled Clinical Trial
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - China
TA  - Zhonghua Yi Xue Za Zhi
JT  - Zhonghua yi xue za zhi
JID - 7511141
RN  - EC 3.1.6.2 (Steryl-Sulfatase)
SB  - IM
MH  - Adult
MH  - Exons
MH  - Female
MH  - Humans
MH  - Ichthyosis, X-Linked/*diagnosis/*genetics
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Pedigree
MH  - Polymerase Chain Reaction/*methods
MH  - Pregnancy
MH  - Steryl-Sulfatase/genetics
EDAT- 2009/01/23 09:00
MHDA- 2009/06/12 09:00
CRDT- 2009/01/23 09:00
PHST- 2009/01/23 09:00 [entrez]
PHST- 2009/01/23 09:00 [pubmed]
PHST- 2009/06/12 09:00 [medline]
PST - ppublish
SO  - Zhonghua Yi Xue Za Zhi. 2008 Dec 16;88(46):3246-9.