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A defect in the GALC gene causes Krabbe disease. Persons with this gene defect do not make enough of a substance called galactocerebroside beta-galactosidase(galactosylceramidase).The body needs this substance to make myelin, the material that sur...
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Brothers and sisters of an affected child with Krabbe disease have a 66% chance of being a carrier.The GALC gene is located on chromosome 14. Over 70 mutations(gene alterations) known to cause Krabbe disease have been identified.
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Krabbe disease is an autosomal recessive disorder. Affected individuals have two nonfunctional copies of the GALC gene.
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Krabbe disease is an autosomal recessive disorder. Affected individuals have two nonfunctional copies of the GALC gene.
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Detailed information on single gene defects and patterns of inheritance Genes are what determine your traits, such as eye color and blood type. They are contained on our chromosomes, which normally number 46 (23 pairs) in each cell of our body. There are an estimated 25,000 genes contained on these 46 chromosomes. Genes are made of DNA. DNA is an acronym for deoxyribonucleic acid. DNA is made up of base pairs that code for certain proteins. So, ultimately, a gene, or a section of our DNA, makes a protein. There is also DNA in-between genes, which does not code for anything in particular, but simply serves as a "spacer." Therefore, not all of the DNA in our cells is used to make protein products.
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Detailed information on single gene defects and patterns of inheritance There are many different single gene defects that require clinical care by a physician or other healthcare professional. Listed in the directory below are some, for which we have provided a brief overview.
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