Patent ID: 9580753
Date: 2017-02-28
CPC Classifications: C12Q

Claim:
1. A method for diagnosing a risk of porencephaly and/or cerebral hemorrhage and treating porencephaly and/or cerebral hemorrhage, said method comprising: (a) obtaining a sample from a in utero human fetus; (b) detecting at least one mutation present in at least one allele of a COL4A2 gene in the sample; (c) diagnosing the human fetus as having a high risk of porencephaly and/or cerebral hemorrhage after detecting the presence of at least one mutation in at least one allele of the COL4A2 gene; and (d) administering cesarean section to the woman carrying the in utero human fetus diagnosed with a high risk of porencephaly and/or cerebral hemorrhage, wherein said at least one mutation comprises at least one selected from the group consisting of (1) and (2) below: (1) mutation of G at position 3455 of the COL4A2 gene coding region (position 301 of SEQ ID NO:31) to A; and (2) mutation of G at position 3110 of the COL4A2 gene coding region (position 385 of SEQ ID NO:28) to A.