PMID- 27264818
OWN - NLM
STAT- MEDLINE
DCOM- 20160802
LR  - 20160606
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 33
IP  - 3
DP  - 2016 Jun
TI  - [Pathogenetic mechanism for a female patient with hemophilia A].
PG  - 344-8
LID - 10.3760/cma.j.issn.1003-9406.2016.03.015 [doi]
AB  - OBJECTIVE: To explore the pathogenetic mechanism for a female patient affected 
      with hemophilia A (HA). METHODS: Potential genetic defect was detected with 
      inverse shifting-polymerase chain reaction (IS-PCR). The pattern of X chromosome 
      inactivation was determined with a human androgen receptor assay (HUMARA assay). 
      G-banded karyotyping was carried out to exclude potential chromosome aberrations. 
      RESULTS: IS-PCR showed that the defect of FVIII gene was the distal type of 
      intron 22 inversion. The HUMARA assay showed that the X chromosome inactivation 
      was non-random, and that the mother's X chromosome activity was lower than that 
      of the father's X chromosome which has carried the inverted FVIII gene. No 
      abnormalities were found with G-banded chromosomes. CONCLUSION: The prevalence of 
      female HA patient may be caused by non-random inactivation of X chromosomes.
FAU - Chen, Jiadi
AU  - Chen J
AD  - Fujian Institute of Hematology, Fujian Provincial Key Laboratory of Hematology, 
      Fujian Medical University Union Hospital, Fuzhou, Fujian 350001, China. 
      huanghuif@126.com.
FAU - Lin, Yanfang
AU  - Lin Y
FAU - Lin, Xiaolan
AU  - Lin X
FAU - Chen, Wanzi
AU  - Chen W
FAU - Fu, Qiang
AU  - Fu Q
FAU - Huang, Huifang
AU  - Huang H
LA  - chi
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
RN  - 0 (AR protein, human)
RN  - 0 (Receptors, Androgen)
SB  - IM
MH  - Adolescent
MH  - Female
MH  - Hemophilia A/etiology/*genetics
MH  - Humans
MH  - Karyotyping
MH  - Polymerase Chain Reaction
MH  - Receptors, Androgen/analysis
MH  - *X Chromosome Inactivation
EDAT- 2016/06/07 06:00
MHDA- 2016/08/03 06:00
CRDT- 2016/06/07 06:00
PHST- 2016/06/07 06:00 [entrez]
PHST- 2016/06/07 06:00 [pubmed]
PHST- 2016/08/03 06:00 [medline]
AID - 940632074 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2016.03.015 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Jun;33(3):344-8. doi: 
      10.3760/cma.j.issn.1003-9406.2016.03.015.