Female factor IX deficiency due to maternally inherited X-inactivation.

نویسندگان

J M Esquilin

C M Takemoto

N S Green

چکیده

X-chromosome inactivation is normally a random event that is regulated by the X chromosome itself. Rarely, females are affected by X-linked disorders from extremely skewed X-chromosome inactivation. Here, we report a family with hemophilia B with female expression through inherited X skewing that appears to be independent of either X chromosome. This finding suggests the possibility of a dominant autosomal contribution to inherited skewed X inactivation.

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Sex-Differential Selection and the Evolution of X Inactivation Strategies

X inactivation--the transcriptional silencing of one X chromosome copy per female somatic cell--is universal among therian mammals, yet the choice of which X to silence exhibits considerable variation among species. X inactivation strategies can range from strict paternally inherited X inactivation (PXI), which renders females haploid for all maternally inherited alleles, to unbiased random X i...

متن کامل

Bex1, a gene with increased expression in parthenogenetic embryos, is a member of a novel gene family on the mouse X chromosome.

Parthenogenetic and normal blastocysts were compared using differential display analysis as a means to identify new imprinted genes. A single gene was identified with increased expression in parthenogenetic blastocysts, suggesting it might be an imprinted gene expressed from the maternally inherited allele. The gene, named Bex1 (brainexpressedX-linked gene), maps near Plp on the mouse X chromos...

متن کامل

Detection of Carriers for Factor IX (PTC) Deficiency

is a congenital, often familial, hemorrhagic disorder which was distinguished from classical hemophilia (AHG deficiency, factor VIII deficiency, hemophilia A) in 1952.13 Like the latter, it is usually inherited as a sex-linked recessive trait: only the male hemizygote for the abnormal gene is clinically affected, and the female heterozygote or carrier is asymptomatic. From a eugenic standpoint ...

متن کامل

X Inactivation: Pre- or Post-Fertilisation Turn-off?

In mammals, X chromosome expression is balanced in females and males by shutting off one of the two X chromosomes in each cell of a female [1]. This process of X inactivation involves epigenetic regulation, characterised by repressive modifications to DNA and chromatin, late replication of the inactive X and the expression of an untranslated RNA, Xist, which coats one of the X chromosomes in ci...

متن کامل