Cleft palate, transforming growth factor alpha gene variants, and maternal exposures: Assessing gene-environment interactions in case-parent triads

2003 ◽  
Vol 25 (4) ◽  
pp. 367-374 ◽  
Author(s):  
Astanand Jugessur ◽  
Rolv T. Lie ◽  
Allen J. Wilcox ◽  
Jeffrey C. Murray ◽  
Jack A. Taylor ◽  
...  
Keyword(s):  
Growth Factor ◽  
Cleft Palate ◽  
Transforming Growth Factor ◽  
Transforming Growth Factor Alpha ◽  
Gene Variants ◽  
Gene Environment ◽  
Factor Alpha ◽  
Alpha Gene ◽  
Maternal Exposures

Transforming growth factor alpha: an aromatic side chain at position 38 is essential for biological activity

1989 ◽  
Vol 9 (2) ◽  
pp. 860-864
Author(s):  
E Lazar ◽  
E Vicenzi ◽  
E Van Obberghen-Schilling ◽  
B Wolff ◽  
S Dalton ◽  
...  
Keyword(s):  
Biological Activity ◽  
Growth Factor ◽  
Disulfide Bonds ◽  
Transforming Growth Factor ◽  
Site Directed Mutagenesis ◽  
Side Chain ◽  
Transforming Growth Factor Alpha ◽  
Aromatic Side Chain ◽  
Factor Alpha ◽  
Alpha Gene

Site-directed mutagenesis has been performed in the human transforming growth factor alpha gene. When tyrosine 38 is mutated into phenylalanine or tryptophane, biological activity is retained. In contrast, other alterations between cysteine 34 and cysteine 43 and disruption of disulfide bonds 8 to 21 and 34 to 43 resulted in loss of activities. The presence of an aromatic side chain at position 38 of transforming growth factor alpha seems to be essential for its activity.

No Evidence of Linkage for Cleft Lip with or without Cleft Palate to a Marker Near the Transforming Growth Factor Alpha Locus in Two Populations

1997 ◽  
Vol 47 (2) ◽  
pp. 101-109 ◽  
Author(s):  
Diego F. Wyszynski ◽  
Nancy Maestri ◽  
Amy F. Lewanda ◽  
Iain McIntosh ◽  
Anne Smith ◽  
...  
Keyword(s):  
Growth Factor ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Transforming Growth Factor ◽  
Transforming Growth Factor Alpha ◽  
Factor Alpha ◽  
Two Populations

scholarly journals EXPRESSION OF TRANSFORMING GROWTH FACTOR ALPHA BAMHI AND RSAI GENE VARIANTS ASSOCIATED WITH NON-SYNDROMIC CLEFT PALATE OF INDONESIAN SUBJECTS USING POLYMERASE CHAIN REACTION METHOD

2018 ◽  
Vol 11 (4) ◽  
pp. 351
Author(s):  
Ani Melani Maskoen ◽  
Saskia L Nasroen ◽  
Prima Nanda Fauziah ◽  
Eky Setiawan Soeria Soemantri ◽  
Basri A Gani
Keyword(s):  
Polymerase Chain Reaction ◽  
Risk Factor ◽  
Growth Factor ◽  
Transforming Growth Factor ◽  
Transforming Growth Factor Alpha ◽  
Gene Variants ◽  
Gene Variant ◽  
Chain Reaction ◽  
Factor Alpha ◽  
Polymerase Chain

 Objective: This study aimed to detect and analyze transforming growth factor alpha (TGFA) BamHI and RsaI gene variants which associated with the risk factor of non-syndromic cleft palate only (NS CPO) of Indonesian subject.Methods: This was case-control study using samples from 32 NS CPO subjects and 28 control subjects. DNA was extracted from venous blood, and the TGFA gene was amplified using polymerase chain reaction technique, then digestion product from TaqI and RsaI restriction enzyme was evaluated. Statistical analysis to determine significant differences of gene variant frequency among NS CPO subject and control was χ2. The odds ratio (OR) was used to determine a risk factor of NS CPO.Results: The study results showed that the TGFA BamHI gene variant was not identified in NS CPO among Indonesian but TGFA RsaI gene variant was identified. The frequency of TT/B1B1 homozygous mutant genotype was 80.0% in NS CPO subjects and 20.0% in control subjects (OR=3.857; 95% confidence interval=0.405–36.749).Conclusion: TGFA RsaI gene can be considered a risk factor of NS CPO compared TGFA BamH1 gene of Indonesian subjects.

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