Table I.- Two point LOD score
yielded by chromosome7q markers for Pendred families.
Parametric multipoint LOD scores
indicate linkage to three loci on 3p24.1-22.2, 13q33.2-34, and 15q22.2-25.1 with a maximum LOD score
close to three.
The remaining 124 markers (49% in female parent, 36% in male parent, and 15% in two parents) were not included because these markers did not accord with the linkage grouping or ordering thresholds (LOD score
[greater than or equal to] 3.0) of the pseudo-testcross mapping strategy in JoinMap 3.0.
As a result, the above-mentioned suggestive QTL for CHO on Chr 5 and suggestive QTL for TG on Chr 12 were identified as significant QTL (LOD score
was 3.7 for both QTL) (Figures 1(b) and 2(b), broken lines).
The lightness ([L.sup.*]) exhibited a high level of residual kurtosis (1.78), which may affect the test statistic (i.e., LOD score
Fine mapping narrowed the region to 19:45630547-19:46384795 with a LOD score
of 1.94 (Figure 3B).
The segregation of this variant with BHD generated a LOD score
of 10.4 (at [theta] = 0.0 and 80% penetrance).
A maximal LOD score
of 8.26 was obtained for marker D3S1263 at e = 0.00, which suggested linkage [Table 4].
The LOD score
at the centromeric region (64 cM) was negative, but the HLOD score was 2.6 (Table 4, Figure 1(a)), suggesting linkage in only a subset of the families.
The MLINK program of FASTLINK package10 was used to calculate twopoint LOD score
for each of the markers using equal allele frequencies.
Cok noktali baglanti analizinde (multipoint lod score
) elde edilen maksimum lod skor her dort kromozom bolgesi icinde 2,902 olarak saptanmistir.