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Table 2 Family based association study of DEFA3 gene absence in A1555G families.

From: MRPS18CP2 alleles and DEFA3absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene

Marker

Genotype

Freq

Fam#

S

E(S)

Var(S)

Z

P

DEFA3

present

0.689

9

8.00

6.83

2.69

0.71

0.477

 

absent

0.311

9

11.00

6.67

3.36

2.36

0.018**

  1. # Number of informative families; S, observed transmission of genotype to affected offspring;
  2. E(S), expected transmission under Mendelian inheritance; Var(S), variance; P, two-tailed P value;
  3. **Significant P value after Bonferroni correction (P < 0.025).
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BMC Medical Genetics

ISSN: 1471-2350

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