Balkan Journal of Medical Genetics

REAL-TIME POLYMERASE CHAIN REACTION FOR GENOTYPING OF THE TRANSFORMING GROW FACTOR β1 POLYMORPHISM Thr263Ile IN PATIENTS WITH BALKAN ENDEMIC NEPHROPATHY AND IN A HEALTHY BULGARIAN POPULATION
Atanasova S1, von Ahsen N2, Dimitrov Tz3, Armstrong V2, Oellerich M2, Toncheva D1,*
*Corresponding Author: Professor Draga Toncheva, Ph.D., Department of Medical Genetics, Medical University Sofia, 2 Zdrave str., Sophia, Bulgaria; Tel/Fax: +359-2-9520-357; E-mail: draga@spnet.net
page: 37

RESULTS

The observed TGFb1 allele frequencies among the investigated subjects are summarized in Table 1. The variant allele 263Ile was significantly rare in BEN cases (frequency 0.02), compared to the controls (0.07) (p = 0.047, c2 = 3.956). The frequency of the variant allele 263Ile in healthy Bulgarians differed from the frequency in Caucasians (0.03) [6].

Table 1. Frequencies of the studied TGFb1 alleles in BEN patients and healthy Bulgarians

Allele

BEN Patients

(N = 95) < /FONT>

Bulgarians

(N = 112)

Yates’

p Value

Caucasians

(N = 629) [6]

Frequency

263Thr

185

0.98

209

0.93

0.047

1212

0.970

263Ile

0.02

0.07

0.030

Note: N = number of studied individuals; n = number of alleles.

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