Prevention of Lysosomal Storage Diseases and Derivation of Mutant Stem Cell Lines by Preimplantation Genetic Diagnosis
Table 1
(a) Characteristics of Tay Sachs carriers, (b) characteristics of Gaucher disease type 1 carriers, and (c) characteristics of couples in which females were carriers of Hunter syndrome.
(a)
Family number
Mutation female/male
Healthy/affected children prior to PGD
Female age (years)
1
IVS12G>C/Gly269Ser
0
25
2
1278insTATC/1278insTATC
0
32
3
1278insTATC/1278insTATC
1/0
29
4
1278insTATC/Gly269Ser
1/0
31
5
1278insTATC/1278insTATC
3/0
33
6
1278insTATC/Gly269Ser
1/0
30
7
1278insTATC/Gly269Ser
0
31
8
1278insTATC/1278insTATC
3/0
34
9
IVS12G>C/Gly269Ser
0
28
10
1278insTATC/1278insTATC
2/TOP*
33
11
1278insTATC/1278insTATC
0/1**
29
TOP*: termination of pregnancy due to affected embryo.
**The male was also a carrier of a balanced Robertsonian translocation 45XYder(21;14).
(b)
Family number
Mutation female/male
Healthy/affected children prior to PGD
Female age (years)
1
IVS2+1G>A/N370S
0
25
2
N370S/R359Q
0/1*
34
3
N370 homozygous/84GG
1/0
29
4
Arg496His/84GG
0
30
*The daughter died at the age of five due to severe pulmonary involvement.
(c)
Family number
Mutation female
Healthy/affected children prior to PGD
Female age (years)
1
L410P*
2/0
34
2
L410P*
1/0
25
3
Del exons 4–7
0/TOP*
24
TOP*: termination of pregnancy due to affected embryo.
