Hight prevalence of the c.3207C>A (p.H1069Q) mutation in Lithuanian patients with hepatic presentation of Wilson's disease

Kučinskas, Laimutis; Petrenkienė, Vitalija; Vitkauskienė, Astra; Naginienė, Rima; Kupčinskas, Limas

Use this url to cite publication: https://hdl.handle.net/20.500.12512/91318

Hight prevalence of the c.3207C>A (p.H1069Q) mutation in Lithuanian patients with hepatic presentation of Wilson's disease

Type of publication

Tezės kitame recenzuojamame leidinyje / Theses in other peer-reviewed publication (T1e)

Author(s)

Author	Affiliation
Kučinskas, Laimutis	Virškinimo sistemos tyrimų institutas (U520300)
Petrenkienė, Vitalija	Gastroenterologijos klinika (U523800)
Vitkauskienė, Astra	Laboratorinės medicinos klinika (U524300)
Naginienė, Rima	Toksikologijos laboratorija (U572000)
Kupčinskas, Limas	Gastroenterologijos klinika (U523800)

Title

Hight prevalence of the c.3207C>A (p.H1069Q) mutation in Lithuanian patients with hepatic presentation of Wilson's disease

L. Kučinskas, V. Petrenkienė, A. Vitkauskienė, R. Naginienė, L. Kupčinskas

Publisher (trusted)

Medicinos spaudos namai

Date Issued

Date
2014-01-31

Extent

p. 5, no. B-09.

Is part of

Gastroenterologija ir hepatologija : 1-st Baltic Congress of Gastroenterology Congress of Lithuanian Society of Gastroenterology : January 31 - February 1, 2014, Kaunas, Lithuania : Abstracts = 1-ojo Baltijos šalių gastroenterologų suvažiavimo mokslinės tezės / Vyriausiasis redaktorius: Limas Kupčinskas. Kaunas : Medicinos spaudos namai, 2014, Nr. 1(8).

Version

Originalus / Original

Series/Report no.

Mokslinės tezės/Abstracts.

Field of Science

Keywords (en)

Abstract (en)

Background/Aim. Wilson disease (WD) is a life threatening autosomal recessive genetic disorder with impaired cooper metabolism and associated with hepatic, neurological and psychiatric symptoms. The aim of our study was to investigate the prevalence of the ATP7B gene mutation in patients with hepatic presentation of WD in Lithuania. Methods. Twenty two unrelated Lithuanian families, including 27 WD patients were tested. Clinically WD diagnosis was established in accordance to the Leipzig scoring system. Genomic DNA was extracted from whole venous blood using a salt precipitation method. Firstly, the semi-nested polymerase chain reaction (PCR) technique was used to detect the c.3207C>A (p.H1069Q) mutation. Patients not homozygous for the c.3207C>A (p.H1069Q) mutation were further analysed. Results. Total of 27 WD patients presented with hepatic disorders and 20 their degree relatives (including 16 siblings) were studied. [...].