Table 1 Distribution of CFTR gene mutations in Chechen CF patients

CFTR genotypes

Number of patients (n = 32)

Frequency

 c.[1545_1546delTA];[1545_1546delTA] (p.[Tyr515X];[Tyr515X]; 1677delTA/1677delTA)

20

0.625

 c.[1545_1546delTA];[274G > A] (p.[Tyr515X];[Glu92Lys]; (1677delTA/ E92K)

8

0.251

 c.[1545_1546delTA];[287C > A] p.[Tyr515X];[Ala96Glu]; 1677delTA/A96E)

1

0.031

 c.[1545_1546delTA];[1000C > T] (p.[Tyr515X];[Arg334Trp]; 1677delTA/R334W)

1

0.031

 c.[1545_1546delTA];[3846G > A] (p.[Tyr515X];[Trp1282X]; 1677delTA/W1282X)

1

0.031

 c.[1545_1546delTA];[3925_3936delCAGTGGAGTGAT] (p.[Tyr515X];[Trp1310_Gln1313del])

1

0.031

CFTR alleles

Number (n = 64)

Frequency

 c.1545_1546delTA (p.Tyr515X; 1677delTA)

52

0.8130

 c.274G > A (p.Glu92Lys, E92K)

8

0.1250

 c.287C > A (p.Ala96Glu, A96E)

1

0.0155

 c.1000C > T (p.Arg334Trp; R334W)

1

0.0155

 c.3846G > A (p.Trp1282X; W1282X)

1

0.0155

 c.3925_3936delCAGTGGAGTGAT (p.Trp1310_Gln1313del)

1

0.0155