Carrier Determination in a Hemophilia B Family Using Single Strand Conformation Polymorphism (SSCP) and Sequencing

Document Type: Brief Report

Authors

1 Biotechnology Research Center, Pasteur Institute of Iran, Tehran, 2Hemophilia Center, Imam Khomeini Hospital, Tehran, I.R. Iran.

2 Hemophilia Center, Imam Khomeini Hospital, Tehran, I.R. Iran.

3 Biotechnology Research Center, Pasteur Institute of Iran, Tehran, I.R. IRan.

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