Hemophilia in the Russian royal family was caused by defective protein involved in blood clotting (factor IX). This defective protein was caused by a mutation that altered the splicing of the exons. This genetic change in the splicing pattern created a new stop codon in the mRNA for factor IX. Is it likely that the mutation has altered at least one base at the exon-intron boundary in the wild-type pre-mRNA? Why or why not?
Hemophilia in the Russian royal family was caused by defective protein involved in blood clotting (factor IX). This defective protein was caused by a mutation that altered the splicing of the exons. This genetic change in the splicing pattern created a new stop codon in the mRNA for factor IX.
Is it likely that the mutation has altered at least one base at the exon-intron boundary in the wild-type pre-mRNA? Why or why not?
Hemophilia -- It occurs in about 1 of every 5000 males .
Usually a inherited disorder in which the blood does not clot properly , spontaneous bleeding as well as bleeding following injuries or surgery.
The gene is on the X chromosome .
Blood is made up of many proteins called clotting factor which help in clotting .
Types of Hemophilia -- Hemophilia is of three types --
1-Hemophilia A -Caused by lack of blood clotting factor VIII ,approximately 85% of Hemophilic population have Hemophilia A type .
2-Hemophilia B- Also called as Christmas disease caused by a deficiency of factor IX.
3- Hemophilia C -Some person lack clotting factor XI.
Hemophilia A is about four times as common as Hemophilia B . Changes in the F8 gene are responsible for Hemophilia A , while mutation in the F9 gene causes Hemophilia B .The F8gene provides instructions for making a protein called coagulation factor VIII .
A related protein , coagulation factor IX is produced from the F9 gene .
The gene is on the X chromosome ,can be carried by either the mother or father or both .
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