Molecular Biology International / 2012 / Article / Tab 1

Research Article

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 numberMutation female/maleHealthy/affected children prior to PGDFemale age (years)

1IVS12G>C/Gly269Ser025
21278insTATC/1278insTATC032
31278insTATC/1278insTATC1/029
41278insTATC/Gly269Ser1/031
51278insTATC/1278insTATC3/033
61278insTATC/Gly269Ser1/030
71278insTATC/Gly269Ser031
81278insTATC/1278insTATC3/034
9IVS12G>C/Gly269Ser028
101278insTATC/1278insTATC2/TOP*33
111278insTATC/1278insTATC0/1**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 numberMutation female/maleHealthy/affected children prior to PGDFemale age (years)

1IVS2+1G>A/N370S025
2N370S/R359Q0/1*34
3N370 homozygous/84GG1/029
4Arg496His/84GG030

*The daughter died at the age of five due to severe pulmonary involvement.
(c)

Family numberMutation femaleHealthy/affected children prior to PGDFemale age (years)

1L410P*2/034
2L410P*1/025
3Del exons 4–70/TOP*24

TOP*: termination of pregnancy due to affected embryo.

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