Carrier testing and prenatal diagnosis of haemophilia B by SSCP in an Iranian family.
Haemophilia B is an X-linked recessive bleeding disorder caused by multiple molecular defects in factor IX gene. During our genotyping programme of haemophilia B patients, a family from the west of Iran was referred to us. We first detected the mutation in the index case of the family by single-strand conformation polymorphism (SSCP) technique. This technique was then applied in carrier detection and prenatal diagnosis for females of this family. Sequencing later revealed the mutation as being G to A at 20519.
Karimipoor
M
M
Biotechnology Department, Pasteur Institute of Iran, Pasteur St, Tehran, Iran.
Zeinali
S
S
Lak
M
M
Safaee
R
R
D005164:Factor IX / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D006580:Genetic Carrier Screening / Q000379:methods*; D002836:Hemophilia B / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
D005164:Factor IX