TWO CASES OF ALLELES WITH COMPLEX GENOTYPES AMONG CYSTIC FIBROSIS PATIENTS FROM CROATIA
Tanacković G1, Barišić I2, Knežević J1, Pavelić J1,*
*Corresponding Author: Professor Dr. Jasminka Pavelić, Division of Molecular Medicine, Rudjer Bošković Institute, Bijenička cesta 54, HR-10002 Zagreb, Croatia; Tel: +385-1-4560-926; Fax: +385-1-456-1010; E-mail: jpavelic@rudjer.irb.hr
page: 3

RESULTS

In each of two out of 60 tested CF chromosomes [9], two genetic changes were found: one mutation plus one polymorphism.

Patient 1 had her genotype determined as DF508/ G542X+F508C. The allele with two genetic changes, G542X+F508C, was composed of one mutation, G542X in exon 11, and one polymorphism, F508C in exon 10 (Figs. 1 and 2). The patient was a 9-year-old girl whose clinical features were mostly in gastrointestinal form, with a severe pancreatic insufficiency. Sweat Cl concentration was between 90 and 100 mmol/L. She was born without meconium ileus (Table 1).

 

 

Table 1. Clinical features of two CF patients carrying alleles with two genetic changes.

 

 

Patient 1*

Patient 2 *         

Sex-Age

F-9

F-5

Allele

G542X+F508C        

G542X+P1290P

Sweat Cl–
(mmol/L)

 

90-100

 

70-80   

Pancreatic
insufficiency

 

Yes

 

Yes

Respiratory
infection

 

Pseudomonas
aeruginosa

 

 

Patient 2 had the genotype DF508/G542X+P1290P. The allele with two genetic changes, G542X+P1290P, was composed of one mutation, G542X in exon 11, and one polymorphism, P1290P in exon 20 (Fig. 3). The same allele with two genetic changes was found in the patient’s healthy mother. The patient, a 5-year-old girl, suffers often from respiratory problems caused by a Pseudomonas aeruginosa infection, and also severe pancreatic insufficiency. Sweat Cl concentration was between 70 and 80 mmol/L (Table 1). She was born without meconium ileus.

 

 




Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Accepted articles (Accepted, unedited articles, published online and can be cited. The final edited and printed version of the manuscript will appear in future)
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006