Elastin (ELN) gene point mutation in patients with inguinal hernia

Genetics and Molecular Biology

Volumn 29, Issue 1, 2006, Pages 45-46

  Rodrigues, Consuelo Junqueira ^a   Yoo, Jin Hwan ^a   Rodrigues Jr , Aldo Junqueira ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Elastic fibers; Elastin gene; Extracellular matrix; Fascia transversalis; Inguinal hernia

Indexed keywords

ADENINE; ELASTIN; GUANINE;

ADULT; AGED; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CHI SQUARE TEST; CLINICAL ARTICLE; CONTROLLED STUDY; ELASTIC FIBER; EXON; FEMALE; GENE FREQUENCY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYDROPHOBICITY; INGUINAL HERNIA; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; POINT MUTATION; QUANTITATIVE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; STATISTICAL SIGNIFICANCE; STRUCTURE ANALYSIS;

EID: 33645019764     PISSN: 14154757     EISSN: 16784685     Source Type: Journal    
DOI: 10.1590/S1415-47572006000100009     Document Type: Article

References (12)

1. Altschul SF, Gish W, Miller W, Myers EW and Lipman DJ (1999) Basic local alignment search tool. Bioinformatics 15:862-863.
2. Ewart AK, Jin W, Atkinson D, Hurst J, Reardon W, Bruch M and Read AP (1994) Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. J Clin Invest 93:1071-1077.
3. Li DY, Toland AE, Boak BB, Atkinson DL, Ensing GJ, Morris CA and Keating MT (1997) Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. Hum Mol Genet 6:1021-1028.
4. Meng X, Lu X, Li Z, Green E, Massa H, Trask BJ, Morris CA and Keating MT (1998) Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes. Hum Genet 103:590-599.
5. Orita M, Iwahana H, Kanazawa K, Hayashi K and Sekiya T (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 86:2766-2770.
6. Pans A, Albert A, Lapiere CM and Nusgens B (2001) Biochemical study of collagen in adult groin hernias. J Surg Res 95:107-113.
7. Parks WC and Deak SB (1990) Tropoelastin heterogeneity: Implications for protein function and disease. Am J Respir Cell Mol Biol 2:399-406.
8. Quintas M, Rodrigues CJ, Yoo JH and Rodrigues Jr AJ (2000) Age related changes in the elastic fiber system of the interfoveolar ligament. Rev Hosp Clin Fac Med S Paulo 55:83-86.
9. Rodrigues Jr AJ, Rodrigues CJ, Cunha ACP and Yoo JH (2002) Quantitative analysis of collagen and elastic fibers in transversalis fascia in direct and indirect inguinal hernia. Rev Hosp Clin Fac Med S Paulo 57:265-270.
10. Rodrigues Junior AJ, Castro de Tolosa EM and Ferraz de Carvalho CA (1990) Electron microscopic study on the elastic and elastic related fibers in the human fascia transversalis at different ages. Gegenbaurs morphol Jahrb 136:645-652.
11. Tassabehji M, Metcalfe K, Donnal D, Hurst J, Reardon W, Bruch M and Read AP (1997) Elastin: Genomic structure and point mutations in patients with supravalvular aortic stenosis. Hum Mol Gen 6:1029-1036.
12. Tassabehji M, Metcalfe K, Hurst J, Ashcroft GS, Kielty C, Wilmot C, Donnai D, Read AP and Jones CJ (1998) An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibers in a patient with autosomal dominant cutis laxa. Hum Mol Genet 7:1021-1028.