PMID- 18471087
OWN - NLM
STAT- MEDLINE
DCOM- 20080811
LR  - 20191210
IS  - 1090-6576 (Print)
IS  - 1090-6576 (Linking)
VI  - 12
IP  - 2
DP  - 2008 Jun
TI  - Identification of duchenne muscular dystrophy female carriers by fluorescence in 
      situ hybridization and RT-PCR.
PG  - 221-3
LID - 10.1089/gte.2007.0081 [doi]
AB  - Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disorder 
      caused by mutations in the dystrophin DMD gene located at Xp21.1 region. Up to 
      65% of the patients present dystrophin gene deletions. Mothers of DMD patients 
      have a two-thirds chance of carrying a dystrophin mutation. The female carrier 
      will transmit the disease gene to half of her sons and half of her daughters. As 
      the recurrence risk for the disease is extremely high, it is very important to 
      detect carrier status among female relatives of the patients to bring an adequate 
      genetic counseling. In this work, results from two methods to identify female 
      carriers are presented. One method is a multicolor fluorescence in situ 
      hybridization (FISH) assay, and the other is reverse transcriptase-polymerase 
      chain reaction (RT-PCR). We showed that FISH is an efficient, sensitive method 
      that brings confident results to detect DMD female carriers as compared to 
      RT-PCR.
FAU - Velazquez-Wong, Ana Claudia
AU  - Velazquez-Wong AC
AD  - Unidad de Investigacion Medica en Genetica Humana, Hospital de Pediatria, Centro 
      Medico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Mexico City, 
      Mexico. clavewong@yahoo.com.mx
FAU - Hernandez-Huerta, Cesar
AU  - Hernandez-Huerta C
FAU - Marquez-Calixto, Areli
AU  - Marquez-Calixto A
FAU - Hernandez-Aguilar, Fidel Omar
AU  - Hernandez-Aguilar FO
FAU - Rodriguez-Cruz, Maricela
AU  - Rodriguez-Cruz M
FAU - Salamanca-Gomez, Fabio
AU  - Salamanca-Gomez F
FAU - Coral-Vazquez, Ramon
AU  - Coral-Vazquez R
LA  - eng
PT  - Evaluation Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genet Test
JT  - Genetic testing
JID - 9802546
RN  - 0 (Dystrophin)
SB  - IM
MH  - Dystrophin/genetics
MH  - Exons/genetics
MH  - Family Health
MH  - Female
MH  - *Genetic Carrier Screening
MH  - Heterozygote
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Muscular Dystrophy, Duchenne/*genetics
MH  - Mutation
MH  - Reverse Transcriptase Polymerase Chain Reaction/*methods
EDAT- 2008/05/13 09:00
MHDA- 2008/08/12 09:00
CRDT- 2008/05/13 09:00
PHST- 2008/05/13 09:00 [pubmed]
PHST- 2008/08/12 09:00 [medline]
PHST- 2008/05/13 09:00 [entrez]
AID - 10.1089/gte.2007.0081 [pii]
AID - 10.1089/gte.2007.0081 [doi]
PST - ppublish
SO  - Genet Test. 2008 Jun;12(2):221-3. doi: 10.1089/gte.2007.0081.