PMID- 10573008
OWN - NLM
STAT- MEDLINE
DCOM- 20000120
LR  - 20061115
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 7
IP  - 7
DP  - 1999 Oct-Nov
TI  - Identification of point mutations in Turkish DMD/BMD families using
      multiplex-single stranded conformation analysis (SSCA).
PG  - 765-70
AB  - Small mutations are the cause of the disease in one third of cases of Duchenne
      and Becker muscular dystrophy (DMD/BMD). The identification of point mutations in
      the dystrophin gene is considered to be very important, because it may provide
      new insights into the function of dystrophin and direct information for genetic
      counselling. In this study, we have screened 18 deletion-prone exons (25.5% of
      the coding region) of the dystrophin gene by using a modified non-isotopic
      multiplex single-stranded conformation analysis (SSCA). Mutations responsible for
      the disease phenotype could be identified in five out of 56 unrelated DMD/BMD
      patients without detectable deletions. Two of these mutations, 980-981delCC and
      719G > C, are novel mutations which have not been described previously. Four of
      the five mutations, including 980-981delCC detected in this study are found to be
      nonsense or frameshift mutations leading to the synthesis of a truncated
      dystrophin protein. The missense mutation, 719G > C, causing the substitution of 
      highly conserved alanine residue at 171 with proline in the actin binding domain 
      of the dystrophin, is associated with a BMD phenotype. This study also revealed
      the presence of six polymorphisms in Turkish DMD/BMD patients.
FAU - Eraslan, S
AU  - Eraslan S
AD  - Division of Molecular Genetics, Diizen Laboratories, Istanbul Turkey.
FAU - Kayserili, H
AU  - Kayserili H
FAU - Apak, M Y
AU  - Apak MY
FAU - Kirdar, B
AU  - Kirdar B
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
RN  - 0 (Dystrophin)
SB  - IM
MH  - Amino Acid Sequence
MH  - Animals
MH  - Dystrophin/*genetics
MH  - Exons
MH  - Family
MH  - Female
MH  - Humans
MH  - Male
MH  - Molecular Sequence Data
MH  - Muscular Dystrophy, Duchenne/*genetics
MH  - Point Mutation/*genetics
MH  - Polymorphism, Genetic/genetics
MH  - *Polymorphism, Single-Stranded Conformational
MH  - Turkey
EDAT- 1999/11/26 00:00
MHDA- 1999/11/26 00:01
CRDT- 1999/11/26 00:00
PHST- 1999/11/26 00:00 [pubmed]
PHST- 1999/11/26 00:01 [medline]
PHST- 1999/11/26 00:00 [entrez]
AID - 10.1038/sj.ejhg.5200370 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 1999 Oct-Nov;7(7):765-70. doi: 10.1038/sj.ejhg.5200370.