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Paper Information

Journal:   GENETICS IN THE 3RD MILLENNIUM   WINTER 2016 , Volume 14 , Number 1; Page(s) 0 To 0.
 
Paper: 

FIRST REPORT OF TWO NOVEL MUTATIONS IN ALPHA SARCOGLYCAN GENE IN TWO IRANIAN FAMILIES WITH LGMD

 
 
Author(s):  MOJBAFAN MARZIEH, TONEKABONI SEYED HASAN, NILIPOUR YALDA, TAVAKKOLY BAZZAZ JAVAD, ZEINALI SIROUS*
 
* DEPARTMENT OF MOLECULAR MEDICINE, BIOTECHNOLOGY RESEARCH CENTER, PASTEUR INSTITUTE OF IRAN, TEHRAN, IRAN
 
Abstract: 

The sarcoglycanopathies (SGPs) are a subgroup of autosomal recessive limb girdle muscular dystrophies (LGMDs).
They are caused by mutations in gamma, alpha, beta, and delta sarcoglycans (SGs) genes. Alpha-SGPs are the most frequent form of SGPs. Muscle biopsy studies in patients with sarcoglycanopathies have indicated that loss of one SG subunit leads to instability of whole SG complex.
Autozygosity mapping is a powerful gene mapping approach for rare recessive inherited disorders in consanguineous families.
two unrelated Iranian families, having 12affected patients, were investigated.Patient’screatine kinase level was high. IHCfindings revealed muscular dystrophy suggestive of sarcogly canopathy.
Autozygosity mapping, using short tandem repeat (STR) markers linked to the SG genes, showed co-segregation of the phenotype with STR markers linked to the SGCA gene.
Mutation analyses revealed novel homozygous deletions in two families; one of them was 11 base pairs in exon 4 and the other was a 2 nucleotide deletion in exon 6 deletions causeframeshift and premature stop codon. They result ineliminating the expression of the downstream part of the extracellular domain of the protein. This domain has a critical role by associating with other molecules of dystrophin–glycoprotein complexes. IHC studies combined with autozygosity mapping and mutation screening is an efficient diagnostic method in the sarcogly canopathies.

 
Keyword(s): SARCOGLYCANOPATHY, SGCA, AUTOZYGOSITY MAPPING, STR
 
 
References: 
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Click to Cite.
APA: Copy

MOJBAFAN, M., & TONEKABONI, S., & NILIPOUR, Y., & TAVAKKOLY BAZZAZ, J., & ZEINALI, S. (2016). FIRST REPORT OF TWO NOVEL MUTATIONS IN ALPHA SARCOGLYCAN GENE IN TWO IRANIAN FAMILIES WITH LGMD. GENETICS IN THE 3RD MILLENNIUM, 14(1), 0-0. https://www.sid.ir/en/journal/ViewPaper.aspx?id=508689



Vancouver: Copy

MOJBAFAN MARZIEH, TONEKABONI SEYED HASAN, NILIPOUR YALDA, TAVAKKOLY BAZZAZ JAVAD, ZEINALI SIROUS. FIRST REPORT OF TWO NOVEL MUTATIONS IN ALPHA SARCOGLYCAN GENE IN TWO IRANIAN FAMILIES WITH LGMD. GENETICS IN THE 3RD MILLENNIUM. 2016 [cited 2021May13];14(1):0-0. Available from: https://www.sid.ir/en/journal/ViewPaper.aspx?id=508689



IEEE: Copy

MOJBAFAN, M., TONEKABONI, S., NILIPOUR, Y., TAVAKKOLY BAZZAZ, J., ZEINALI, S., 2016. FIRST REPORT OF TWO NOVEL MUTATIONS IN ALPHA SARCOGLYCAN GENE IN TWO IRANIAN FAMILIES WITH LGMD. GENETICS IN THE 3RD MILLENNIUM, [online] 14(1), pp.0-0. Available: https://www.sid.ir/en/journal/ViewPaper.aspx?id=508689.



 
 
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