Summary of the Polymorphism Analysis as Performed for Patient (A.P.) and His Parents
| Polymorphisms . | Patient (A.P.) . | Mother (M.P.) . | Father (F.P.) . | |||
|---|---|---|---|---|---|---|
| DNA . | cDNA . | DNA . | cDNA . | DNA . | cDNA . | |
| HPA-1 | a/b | a | a | a | a/b | a/b |
| TaqI | −/+ | − | − | − | + | + |
| HPA-3 | a/b | a | a/b | a | a | a |
| Exon 30 | 2/3 | 3 | 1/2 | 1 | 1/3 | 1/3 |
| Del | −/+ | NA | −/+ | NA | − | NA |
| Polymorphisms . | Patient (A.P.) . | Mother (M.P.) . | Father (F.P.) . | |||
|---|---|---|---|---|---|---|
| DNA . | cDNA . | DNA . | cDNA . | DNA . | cDNA . | |
| HPA-1 | a/b | a | a | a | a/b | a/b |
| TaqI | −/+ | − | − | − | + | + |
| HPA-3 | a/b | a | a/b | a | a | a |
| Exon 30 | 2/3 | 3 | 1/2 | 1 | 1/3 | 1/3 |
| Del | −/+ | NA | −/+ | NA | − | NA |
Analysis of different polymorphisms on DNA was performed using ASRA, SSCP, or DNA sequencing. The detection of the polymorphisms on RNA was performed using the same methods after RT-PCR. HPA-1 andTaqI polymorphisms are carried on the β3 gene and HPA-3, exon 30 polymorphisms, and Del are carried on the αIIb gene. For TaqI: − refers to the absence of digestion and + to digestion by the TaqI restriction enzyme. For Exon 30: 1 refers to the wild-type published sequence; 2 to the silent mutation, C to T, in the codon for Val990; and 3 to the G to A mutation responsible for the Arg995 to Gln amino acid substitution. Del: − and + refer, respectively, to the absence or presence of a 9-bp deletion in intron 21 of the αIIb gene. This 9-bp deletion is observed in HPA-3b individuals only.
Abbreviation: NA, not available for study on cDNA because this polymorphism is located in an intron.