objective: this study was designed to investigate rbc indices and hba2 levels in parents of major beta-thalassemia patients to detect possible silent beta- thalassemia carriers and examine its potential impact on the premarital genetic counseling. materials and methods: this cross sectional study was performed at children medical center from 2004 to 2006. after genetic counseling and getting in...

hemophilia b is factor ix deficiency and is inherited as x-linked recessive disorder. the subject of carrier detection in hemophilias has received new impetus in the last several years. analysis of factor ix gene polymorphisms is considered the best approach for prenatal diagnosis and hemophilia b carrier detection, if the identification of the gene mutation is possible. allele frequencies of t...

this study determines the value of linkage analysis using six rflp markers for carrier detection and prenatal diagnosis in familial dmd/bmd cases and their family members for the first time in the iranian population. we studied the dystrophin gene in 33 unrelated patients with clinical diagnosis of dmd or bmd. subsequently, we determined the rate of heterozygosity for six intragenic rflp marker...

Background: Hemophilia B is an X-linked recessive coagulation disorder caused by factor IX deficiency.  Analysis of factor IX gene polymorphisms is considered the best approach for prenatal diagnosis and carrier detection of hemophilia B where the identification of gene mutation is not easily possible. Objective: To study the frequency of three factor IX-linked restriction fragment length polym...

background: hemophilia b is an x-linked recessive coagulation disorder caused by factor ix deficiency.  analysis of factor ix gene polymorphisms is considered the best approach for prenatal diagnosis and carrier detection of hemophilia b where the identification of gene mutation is not easily possible.   objective: to study the frequency of three factor ix-linked restriction fragment length pol...

Juvenile retinoschisis is a rare, X linked hereditary vitroretinal degeneration. Female carriers of the disease do not develop any ocular abnormalities. Therefore, carrier detection by DNA analysis is extremely useful for these females. In order to evaluate the usefulness of a new class of DNA markers for carrier detection in X linked juvenile retinoschisis, DNA carrier detection or carrier exc...