IDDM2 and the Polymorphism of the Human Tyrosine Hydroxylase: RESULTS

Posted by James

Five alleles were identified in this African-American population in the Washington, DC area labeled K5 (244 bp), K4 (248 bp), КЗ (252 bp), K2 (256 bp), and Kl (260 bp) (Table 2). The allele frequencies of the five alleles were estimated from 196 chromosomes of unrelated controls and 96 chromosomes of type-1 diabetes individuals. The heterozygosity of the TCAT marker was larger than 0.75. The most fre­quent allele of the hTH microsatellite repeats was K5 (248 bp), with a frequency 0.62 in controls and 0.66 in type-1 diabetes patients, which was not significantly different. The largest allele (260 bp) showed the greatest difference in allele frequency between patients and controls.

Table 2. hTH Allele Frequency in Normal and Type-1 Diabetes African Americans

hTH Controls

Type-1 Diabetes

X2

P

RR
Allele (bp) N=98 %)

N=48 (%)

244 34 (0.34)

19 (0.38)

0.33

0.564

1.2333
248 62 (0.62)

33 (0.66)

0.43

0.514

1.2774
252 42 (0.42)

22 (0.44)

0.06

0.812

1.0879
256 33 (0.33)

15 (0.3)

0.09

0.769

0.8953
260 25 (0.25)

7 (0.14)

2.25

0.134

0.4985

The five alleles of the hTH microsatellite generated 15 different genotypes. The most frequent genotype in controls and type-1 diabetes individuals was K5/K4 whose frequencies were 0.19 and 0.17, respectively (Table 3). No significant difference was identified between hTH genotype frequency in type-1 diabetes and controls.

Table 3. Distribution of hTH Genotypes

hTH Genotypes

Controls N=91 (%) Type-1 Diabetes N=48 (%)

x2

P p corrected RR
A. 244/244

4 (4.4)

2(4.17)

0.00

0.9496

1.000

0.946

B. 248/248

7 (7.7)

7 (14.6)

1.65

0.1993

-

2.049

C. 252/252

4 (4.4)

1 (2.08)

0.48

0.4864

0.828

0.463

D. 256/256

3 (3.3)

1 (2.08)

0.17

0.6841

1.000

0.624

E. 260/260

1 (1.1)

0(0)

0.53

0.4661

1.000

-

F. 244/248

9 (9.9)

4 (8.33)

0.09

0.7644

1.000

0.828

G. 244/252

7 (7.7)

5 (10.4)

0.30

0.5866

0.821

1.395

H. 244/256

3 (3.3)

2(4.17)

0.08

0.7752

1.000

1.304

1. 244/260

4 (4.4)

4 (8.33)

0.90

0.3432

0.572

1.977

J. 248/252

17(18.7)

8 (16.7)

0.09

0.7687

-

0.871

K. 248/256

6 (6.6)

5 (10.4)

0.63

0.4272

0.643

1.647

L. 248/260

8 (8.8)

1 (2.08)

2.33

0.1265

0.244

0.221

M. 252/256

10(11)

5 (10.4)

0.01

0.9176

1.000

0.942

N. 252/260

2 (2.2)

1 (2.08)

0.00

0.9648

1.000

0.947

O. 256/260

6 (6.6)

2(4.17)

0.34

0.5591

0.841

0.616

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