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. 2017 Apr 13;62(8):789–795. doi: 10.1038/jhg.2017.42

Table 5. Haplotype analysis.

Marker D13S1316 del(GJB2-D13S175) D13S175 D13S1275 D13S232
GRCh37, Mb 20.68 20.76–20.86 20.85 22.95 23.80
Marshfield, cM 0   6.03 6.99 6.99
Genethon, cM 0   7.4 8.8 No data
           
Chromosome          
 Patient E 15 del del 22 11
 Patient H 15 del del 22 11
 Patient E 2 del del 22 11
 Patient D 15 del del 22 13
 Patient A 15/14 del del 22/24 11/19
 Patient F 15 del del 23 11/13
 Patient F 15 del del 25 13/11
 Patient H 15 del del 23 19
 Patient G 15 del del 20 19
 Patient B 15/14 del del 23/26 13
 Patient C 15/14 del del 21/19 13/20
The healthy Ingush 15/18 del del 25/26 13/14
           
Allele associated with del(GJB2-D13S175) 15 del del 22 11
PD 0.875 (0.917)     0.455 (0.417) 0.455 (0.417)
PN 1/6=0.167a (1/10=0.1)a     23/180=0.128 23/160=0.144
P-valueb 0.0353 (0.0007)     0.015 (0.0202) 0.0290 (0.0390)
δ; 90% CI 0.850; 0.612–1.00 (0.908; 0.761–1.00)     0.375; 0.042–0.708 (0.331; 0.062–0.601) 0.363; 0.024–0.702 (0.319; 0.044–0.594)
gMarsh; 90% CI No linkage map data     102; 36–328 (114; 53–289) 105; 37–386 (118; 54–325)
gGen; 90% CI No linkage map data     70; 25–224 (78; 36–197) No linkage map data

Abbreviation: CI, confidence interval.

a

The frequency obtained using the normal chromosomes from patients and their parents. δ, the degree of linkage disequilibrium by Bengtsson and Thomson,24 δ=(PD−PN)/(1−PN), where PD is the frequency of associated allele on del(GJB2-D13S175) carrying chromosomes and PN is the frequency of the same allele on chromosomes without del(GJB2-D13S175). g, the generation number by Risch et al.,22 obtained by use of θ values between D13S175 and D13S1275 or D13S232 from Marshfield map, gMarsh, and from Genethon map, gGen.

b

P-value for Yates corrected χ2.

At the top, the position of del(GJB2-D13S175) and four microsatellite markers studied. In the middle, haplotypes of del(GJB2-D13S175) carrying chromosomes. For patients A, B, C, F and the healthy Ingush, we were unable to phase mutation-carrying chromosomes into haplotypes by using other family members, therefore, two alleles are separated by slash. Below, the age of del(GJB2-D13S175) in the Ingushes is estimated. Within brackets, the calculations taking into account chromosomes of patients A, B, C, F and the healthy Ingush are present.