Table 2.

Mutation analysis of the familial B-CLL

FamilyVH FamilyVH Gene% IdentitynCDR1 + CDR2FR1 + FR2 + FR3D GeneJH GeneSequence Pattern
Observed R/S (Exp. R) Inherent R:S P Observed R/S (Exp. R) Inherent R:S P
 1a  VH4  4-34  100 0  0/0  nd  nd  0/0  nd  nd D3-10  JH4b  germ line  
 1b  VH3  3-13  99.7 1  1/0 (0.2)  3.23  nd  0/0 (0.6)  nd nd  D2-2  JH5b  germ line* 
 2a/1('88) VH1  1-02  91.8  24  8/0 (4.4)  4.34  0.035# 7/9 (13.9)  2.99  2.92 × 10−3† D6-19  JH5b  intraclonal mutation  
 2a/2('88)  VH1 1-02  93.2  20  6/0 (3.6)  4.34  0.085 7/7 (11.6)  2.99  0.021† D6-19  JH5b  intraclonal mutation  
 2a/3('88)  VH1  1-02  91.2  26 8/0 (4.7)  4.34  0.051  10/8 (15.1)  2.99  0.021† D6-19  JH5b  intraclonal mutation  
 2a′/1('98)  VH1 1-02  91.2  26  8/0 (4.7)  4.34  0.051 10/8 (15.1)  2.99  0.021† D6-19  JH5b intraclonal mutation  
 2a′/2('98)  VH7  7-4-1  92.4 22  3/2 (3.9)  3.63  0.209  8/9 (12.9)  2.94 0.023† D2-15  JH4b  intraclonal mutation  
 2b VH4  4-61  94.6  16  6/3 (3.0)  4.03  0.042# 4/3 (8.9)  2.61  0.010† D3-22  JH4b  somatic mutation  
 3a  VH3  3-73  91.8  24  9/1 (4.4) 3.08  0.015#  10/4 (13.6)  2.99  0.057  D1-7 JH4b  somatic mutation  
 3b  VH3  3-74  93.2  20 6/0 (3.6)  3.90  0.079  9/5 (11.4)  2.80  0.097 D3-9  JH5a  somatic mutation  
 4a  VH4  4-34 93.8  18  6/1 (3.3)  4.50  0.065  4/7 (10.2) 2.73  2.65 × 10−3† D3-3  JH5a somatic mutation  
 4b  VH3  3-30  91.2  26 4/7 (4.6)  3.87  0.200  9/6 (14.9)  2.85  0.011† N/A  JH4b  somatic mutation  
 4c  VH3  3-30 99.7  1  0/0 (0.2)  nd  nd  1/0 (0.6) 2.85  0.574  D6-25  JH4b  germ line* 
 5a  VH1 1-69  99.7  1  0/1 (0.2)  nd  nd 0/0 (0.6)  nd  nd  D2-2  JH6b  germ line* 
 5b  VH5  5-51  100  0  0/0  nd  nd 0/0  nd  nd  N/A  JH6b  germ line  
 6a VH1  1-69  100  0  0/0  nd  nd  0/0 nd  nd  D2-2  JH6b  germ line  
 6b  VH1 1-69  100  0  0/0  nd  nd  0/0  nd nd  D2-2  JH6b  germ line  
 7a  VH3 3-30  94.6  16  2/4 (2.9)  4.05  0.242 6/4 (9.2)  2.85  0.056  N/A  JH4b  somatic mutation 
 7b  VH3  3-7  92.2  23  8/1 (4.3)  4.94 0.032#  11/3 (13.2)  2.84  0.108  N/A  JH4b somatic mutation  
 8a  VH1  1-24  98.3  5 5/0 (0.9)  4.08  1.94 × 10−4# 0/0 (2.9)  nd  nd  N/A  JH6b  somatic mutation  
 8b  VH3  3-9  100  0  0/0  nd nd  0/0  nd  nd  D3-16  JH4b germ line  
 9a  VH4  4-39  100  0  0/0  nd nd  0/0  nd  nd  N/A  JH5b  germ line  
 9b  VH1  1-02  100  0  0/0  nd nd  0/0  nd  nd  D4-17  JH6b germ line  
10a  VH1  1-02  100  0  0/0  nd nd  0/0  nd  nd  D6-19  JH4b germ line  
10b  VH4  4-39  100  0  0/0  nd nd  0/0  nd  nd  D1-26  JH3b germ line  
11a  VH3  3-30  100  0  0/0  nd nd  0/0  nd  nd  D6-19  JH6b germ line  
11b  VH2  2-70  96.3  11  5/0 (2.1) 4.05  0.031#  5/1 (6.3)  2.90  0.177  D6-6  JH4b somatic mutation 
FamilyVH FamilyVH Gene% IdentitynCDR1 + CDR2FR1 + FR2 + FR3D GeneJH GeneSequence Pattern
Observed R/S (Exp. R) Inherent R:S P Observed R/S (Exp. R) Inherent R:S P
 1a  VH4  4-34  100 0  0/0  nd  nd  0/0  nd  nd D3-10  JH4b  germ line  
 1b  VH3  3-13  99.7 1  1/0 (0.2)  3.23  nd  0/0 (0.6)  nd nd  D2-2  JH5b  germ line* 
 2a/1('88) VH1  1-02  91.8  24  8/0 (4.4)  4.34  0.035# 7/9 (13.9)  2.99  2.92 × 10−3† D6-19  JH5b  intraclonal mutation  
 2a/2('88)  VH1 1-02  93.2  20  6/0 (3.6)  4.34  0.085 7/7 (11.6)  2.99  0.021† D6-19  JH5b  intraclonal mutation  
 2a/3('88)  VH1  1-02  91.2  26 8/0 (4.7)  4.34  0.051  10/8 (15.1)  2.99  0.021† D6-19  JH5b  intraclonal mutation  
 2a′/1('98)  VH1 1-02  91.2  26  8/0 (4.7)  4.34  0.051 10/8 (15.1)  2.99  0.021† D6-19  JH5b intraclonal mutation  
 2a′/2('98)  VH7  7-4-1  92.4 22  3/2 (3.9)  3.63  0.209  8/9 (12.9)  2.94 0.023† D2-15  JH4b  intraclonal mutation  
 2b VH4  4-61  94.6  16  6/3 (3.0)  4.03  0.042# 4/3 (8.9)  2.61  0.010† D3-22  JH4b  somatic mutation  
 3a  VH3  3-73  91.8  24  9/1 (4.4) 3.08  0.015#  10/4 (13.6)  2.99  0.057  D1-7 JH4b  somatic mutation  
 3b  VH3  3-74  93.2  20 6/0 (3.6)  3.90  0.079  9/5 (11.4)  2.80  0.097 D3-9  JH5a  somatic mutation  
 4a  VH4  4-34 93.8  18  6/1 (3.3)  4.50  0.065  4/7 (10.2) 2.73  2.65 × 10−3† D3-3  JH5a somatic mutation  
 4b  VH3  3-30  91.2  26 4/7 (4.6)  3.87  0.200  9/6 (14.9)  2.85  0.011† N/A  JH4b  somatic mutation  
 4c  VH3  3-30 99.7  1  0/0 (0.2)  nd  nd  1/0 (0.6) 2.85  0.574  D6-25  JH4b  germ line* 
 5a  VH1 1-69  99.7  1  0/1 (0.2)  nd  nd 0/0 (0.6)  nd  nd  D2-2  JH6b  germ line* 
 5b  VH5  5-51  100  0  0/0  nd  nd 0/0  nd  nd  N/A  JH6b  germ line  
 6a VH1  1-69  100  0  0/0  nd  nd  0/0 nd  nd  D2-2  JH6b  germ line  
 6b  VH1 1-69  100  0  0/0  nd  nd  0/0  nd nd  D2-2  JH6b  germ line  
 7a  VH3 3-30  94.6  16  2/4 (2.9)  4.05  0.242 6/4 (9.2)  2.85  0.056  N/A  JH4b  somatic mutation 
 7b  VH3  3-7  92.2  23  8/1 (4.3)  4.94 0.032#  11/3 (13.2)  2.84  0.108  N/A  JH4b somatic mutation  
 8a  VH1  1-24  98.3  5 5/0 (0.9)  4.08  1.94 × 10−4# 0/0 (2.9)  nd  nd  N/A  JH6b  somatic mutation  
 8b  VH3  3-9  100  0  0/0  nd nd  0/0  nd  nd  D3-16  JH4b germ line  
 9a  VH4  4-39  100  0  0/0  nd nd  0/0  nd  nd  N/A  JH5b  germ line  
 9b  VH1  1-02  100  0  0/0  nd nd  0/0  nd  nd  D4-17  JH6b germ line  
10a  VH1  1-02  100  0  0/0  nd nd  0/0  nd  nd  D6-19  JH4b germ line  
10b  VH4  4-39  100  0  0/0  nd nd  0/0  nd  nd  D1-26  JH3b germ line  
11a  VH3  3-30  100  0  0/0  nd nd  0/0  nd  nd  D6-19  JH6b germ line  
11b  VH2  2-70  96.3  11  5/0 (2.1) 4.05  0.031#  5/1 (6.3)  2.90  0.177  D6-6  JH4b somatic mutation 

CDR = Complementarity-determining region; FR = frame work region; R = number of detected R mutations; S = number of detected S mutations; inherent R:S = mutation ratio of the quotient of total possible R to total possible S mutations (Chang and Casali29); P = probability;

†

, statistically significant (P < .05);

*

, case showing one nucleotide alteration; N/A = D region not assigned (Corbett et al28).

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