GILBERT’S SYNDROME AND CHROMOSOME 2-MAPPED DISEASES


Cite item

Full Text

Open Access Open Access
Restricted Access Access granted
Restricted Access Subscription or Fee Access

Abstract

Gilberts syndrome (GS) is one of the genetic diseases mapped on chromosome 2. GS manifests itself as impaired bilirubin conjugation. The paper gives the case reports of 2 patients with GC and their genealogies.

Full Text

Restricted Access

About the authors

O. Botvlnyev

I.M. Sechenov First Moscow State Medical University

Email: tts801@rambler.ru
Professor

G. Dubrovlna

I.M. Sechenov First Moscow State Medical University

Email: tts801@rambler.ru

A. Kolotlllna

I.M. Sechenov First Moscow State Medical University

Email: tts801@rambler.ru

References

  1. Шерлок Ш., Дули Дж. Заболевания печени и желчных путей. Пер. с англ. / М.: ГЭОТАР-Медиа, 1999; 864 с.
  2. Подымова С.Д. Болезни печени. Рук-во для врачей / М.: Медицина, 2005; 768 с.
  3. Strassburg C., Kalthoff S., Fhmer U. Variability and function of family 1 uridine-5'-diphosphate glucuronosyltransferases (UGT1A) // Crit. Rev. Clin. Lab. Sci. - 2008; 45 (6): 485-530.
  4. Bosma P., Chowdhury J., Bakker C. et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase1 in Gilbert’s syndrome // N. Fngl. J. Med. - 1995; 333: 1171-5.
  5. Shorbagi A., Hascelik G., Haznedaroglu I. Fvidence for higher red blood cell mass in persons with unconjugated hyperbilirubinemia and Gilbert’s syndrome // Am. J. Med. Sci. - 2008; 335: 115-9.
  6. Horsfall L., Zeitlyn D., Tarekegn A. et al. Prevalence of Clinically Relevant UGT1A Alleles and Haplotypes in African Populations // Ann. Hum. Gen. - 2010; 75: 236-46.
  7. Balram C., Sabapathy K., Fei G. et al. Genetic polymorphisms of UDP-glucuronosyltransferase in Asians: UGT1A1*28 is a common allele in Indians // Pharmacogenetics. - 2002; 12: 81-3.
  8. Ando Y., Chida M., Nakayama K. et al. The UGT1A1*28 allele is relatively rare in a Japanese population // Pharmacogenetics. - 1998; 8: 357-60.
  9. Biondi M., Turri O., Dilillo D. et al. Contribution of the TATA-Box Genotype (Gilbert Syndrome) to Serum Bilirubin Concentrations in the Italian Population // Clin. Chemistry. - 1999; 45 (6): 897-8.
  10. Online Mendelian Inheritance in Man An Online Catalog of Human Genes and Genetic Disorders. www.omim.org
  11. Генетический паспорт - основа индивидуальной и предиктивной медицины. Под ред В.С. Баранова / СПб: Изд-во Н-Л, 2009; 528 с.
  12. Buch S., Schafmayer C., Völzke H. et al. Loci from a genome-wide analysis of bilirubin levels are associated with gallstone risk and composition // Gastroenterology. - 2010; 139 (6): 1942-51.
  13. Ильченко Л.Ю., Дроздов В.Н., Шулятьев И.С. Синдром Жильбера: клинико-генетическое исследование // Тер. арх. - 2006; 2: 48-52.
  14. Дубровина Г.М., Ботвиньев О.К., Колотилина А.И. Сочетание синдрома Жильбера с заболеваниями желудочно-кишечного тракта // Рос. журн. гастроэнтерол., гепатол., колопроктол. - 2014; 24 (3): 13-21.
  15. Strassburg C. Pharmacogenetics of Gilbert’s syndrome // Pharmacogenomics. - 2008; 9 (6): 703-15.

Supplementary files

Supplementary Files
Action
1. JATS XML
Download

Copyright (c) 2015 Russkiy Vrach Publishing House