Author/Authors :
Karimipoor, Morteza Pasteur Iinstitute of Iran - Biotechnology Research Center, تهران, ايران , Zeinali, Sirous Pasteur Iinstitute of Iran - Biotechnology Research Center, تهران, ايران , Nafissi, Nafiseh Pasteur Iinstitute of Iran - Biotechnology Research Center, تهران, ايران , Safaee, Reza Hemophilia Center - Imam Khomeini Hospital, ايران , Lak, Manijheh Hemophilia Center - Imam Khomeini Hospital, ايران
Abstract :
Hemophilia B is an X-linked recessive bleeding disorder caused by heterogeneous mutations in factor IX gene. In about one-third of cases it arises by a new mutation in germ-line cells. In this study carrier testing was performed for females of a family with only one affected individual by single strand conformation polymorphism (SSCP). Results indicated that the SSCP band shift in the propositus was de novo and his mother and also sisters were not carrier. This finding was also confirmed by sequencing.
Keywords :
Hemophilia B , Mutation , SSCP , Carrier Testing
