What is the relationship between genes,
proteins, x chromosomes and the haeophilia
disorder?
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ghilliesnstrings
New User, Becoming EHEALTHy
Joined: 17 Jun 2007 Posts: 8
Posted: 06-17-07 19:26pm
Hemophilia (Types A and B) are have
chromosomal x-linked recessive
inheritance. This means that it is
carried on the x chromosome and it will
yield to a normal, dominant trait. Since
women posess two x chromosomes, usually if
the trait is carried in a woman, a woman
will have a dominant normal chromosome and
a recessive abnormal chromosome.
Therefore, it can be passed on, but it
does not, under normal circumstances,
affect her. Males however, only have one
x chromosome (and a y). Therefore, they
can be affected by one recessive trait,
because there is no dominant to mask it.
Males cannot pass it to their sons, as
their sons receive a y from their father,
the x coming from their mother. Males can
pass the gene to their daughters,
resulting in their daughters becoming
carriers (however if the mother passes the
gene to the daughter as well, she will be
a hemophiliac). The gene is therefore
carried my women, but affects males.
The genes are carried on the chromosome.
Genes are what tells the ribosomes of a
cell to create proteins. Since this gene
is defective, is incorrectly "tells" the
ribosome how to make the protein of either
factor VIII or factor IX (VIII being type
A or IX being type B), or perhaps doesn't
even tell it how to make it at all.
That is the relationship. The protein is
essential in forming blood clots, thus the
symptoms of hemophilia.
Hemophilia C, however, is autosomal. This
means it is not sex-linked, however, the
relationship of genes and proteins are on
the same level.