Abstract | BACKGROUND: AIM: METHODS: Among 299 women with intrahepatic cholestasis of pregnancy, 10 showing raised gamma-glutamyl transpeptidase were enrolled in this study. DNA and RNA were extracted from peripheral blood mononuclear cells using standard procedures. The 27 coding exons and the promoter region were amplified by polymerase chain reaction and analyzed by sequencing. Reverse transcript-polymerase chain reaction analysis of ABCB4 mRNA and cDNA analysis were also performed. RESULTS: CONCLUSIONS: Our study demonstrates that splicing mutations in the ABCB4 gene can cause ICP in women with high gamma-glutamyl transpeptidase and thus a complete analysis of coding sequence and cDNA products is required.
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Authors | D Tavian, D Degiorgio, N Roncaglia, P Vergani, I Cameroni, R Colombo, D A Coviello |
Journal | Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
(Dig Liver Dis)
Vol. 41
Issue 9
Pg. 671-5
(Sep 2009)
ISSN: 1878-3562 [Electronic] Netherlands |
PMID | 19261551
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- ATP Binding Cassette Transporter, Subfamily B
- Bile Acids and Salts
- multidrug resistance protein 3
- gamma-Glutamyltransferase
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Topics |
- ATP Binding Cassette Transporter, Subfamily B
(genetics)
- Adult
- Bile Acids and Salts
(blood)
- Cholestasis, Intrahepatic
(blood, genetics)
- DNA Mutational Analysis
- Female
- Humans
- Pregnancy
- Pregnancy Complications
(blood, genetics)
- Promoter Regions, Genetic
(genetics)
- Protein Splicing
(genetics)
- Pruritus
(etiology)
- gamma-Glutamyltransferase
(blood)
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