Fibrillin-1 gene mutation in Chinese patients with Marfan syndrome and its gene diagnosis by haplotype analysis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1-4, 2003.
Article
in Chinese
| WPRIM
| ID: wpr-248515
ABSTRACT
<p><b>OBJECTIVE</b>To analyze fibrillin-1 (FBN(1)) gene mutation in Chinese patients with Marfan syndrome(MFS) and to make a gene diagnosis by haplotype analysis for MFS.</p><p><b>METHODS</b>Nine MFS families were analysed with single strand conformation polymorphism(SSCP) and DNA sequencing. With the use of four primers designed in the flanking sequences of each short-sequence tandem-repeat region in FBN(1) gene, the haplotype-segregation analysis for MFS(B) was performed.</p><p><b>RESULTS</b>In MFS(A)II(1), PCR-SSCP detected SSCP band alterations in exon 25 of FBN(1) gene; direct sequencing showed a small 13bp deletion, the deleted sequence being gcctctgcaccca at base 3243-3456 of cDNA. This mutation caused a frame-shift which was never seen in any unaffected members of the family, and it was a heterozygous mutation; neither of them was identified in 100 chromosomes from 50 normal control individuals. Haplotype-segregation analysis suggested that the disease was passed from Subject I(2) to Subject II(2), Subject II(3), Subject II(5) with the same allele in MFS B family, the proband's daughter also inherited the allele. These data indicated that MFS(B) family was linked to FBN(1) gene, the proband's daughter was an asymptomatic patient.</p><p><b>CONCLUSION</b>The combination of mutation analysis and haplotype analysis can provide more evidence for gene diagnosis.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Haplotypes
/
Polymorphism, Restriction Fragment Length
/
DNA
/
DNA Mutational Analysis
/
Base Sequence
/
Chemistry
/
China
/
Family Health
/
Sequence Deletion
Type of study:
Diagnostic study
Limits:
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2003
Type:
Article
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