Table 1

CFTR genotypes of the family population

Family (N=24)	CFTR genotypes	RA-DB (N=30)	DB only (N=8)	RA only (N=24)	Unaffected individuals (N=76)
1	c.1584G>A (p.Glu528Glu ):-	1
	-:-			1
2	*p.Gly424Ser+*p.Gly576Ala	1
	*p.Gly424Ser*:-	1
	p.Arg75Gln:-	1			1
3	*p.Phe508del (c.1521_1523delCTT)+*5T (c.1210-12[5])				1
	*p.Phe508del*:-	1	2		2
	5T (c.1210-12[5]):-		1
	-:-				1
4	5T (c.1210-12[5]):-	1		1	2
	-:-		1	2	1
	*p.Phe1052Val*:-	1
5	5T (c.1210-12[5]):-			1
6	*p.Phe508del+p.Ser977Phe-5T (c.1210-12[5])*	1	1		1
	*p.Phe508del*:-				1
	*p.Ser977Phe-5T (c.1210-12[5])*:-				3
7	p.Arg75Gln:-	2
8	*p.Asp1152His+c.262_263delTT*	1	1
	*p.Asp1152His+*c.-7G>C				1
	*c.262_263delTT*:-				1
9	c.1584G>A (p.Glu528Glu ):-			1
	p.Arg75Gln:-				1
	-:-	1		5	10
10	c.-7G>C:-	1
	-:-			1	8
11	*p.Ser1235Arg*:-	1		1
	-:-				1
12	p.Ala923Ala:-	1	1
13	c.1584G>A (p.Glu528Glu ):-	1		1	1
	p.Ala923Ala:-	1
14	c.1584G>A (p.Glu528Glu ):-	2			1
	-:-		1		3
15	-:-	1		1	5
16	-:-	1		1	7
17	-:-	2		1	3
18	-:-	1		1
19	-:-	1		1	2
20	-:-	1		1
21	-:-	1		1	3
22	-:-	1		1	6
23	-:-	1		1	3
24	-:-	1		1	7
Total no. of subjects with at least one CFTR mutation		18	6	5	16
Total no. of subjects with at least two CFTR group A or B mutations in trans (compound heterozygous)		3	2	0	1

Group A and B mutations are in bold. See text for classifications of CFTR mutations.
The mutation nomenclature for CFTR mutations was made according to the guidelines from the Human Genome Variation Society (www.hgvs.org). These state that nucleotide number 1 should correspond to the A of the ATG translation initiation codon.
The description of all mutations is preceded by a letter indicating the type of reference sequence used; ‘c’ relates to a coding DNA sequence and ‘p’ a protein sequence. The CFTR cDNA sequence (GenBank NM_000492.2) is used as the reference sequence.
DB, diffuse bronchiectasis; RA, rheumatoid arthritis; RA-DB, RA-associated diffuse bronchiectasis; –, no identified CFTR mutation.