FSHD1 is associated with a permissive haplotype at which genomic locus?

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Multiple Choice

FSHD1 is associated with a permissive haplotype at which genomic locus?

Explanation:
FSHD1 hinges on a permissive haplotype at the distal 4q subtelomere. In this disorder, the disease-causing event is a contraction of the D4Z4 repeat array on chromosome 4q35. However, the contraction only leads to pathogenic expression if it occurs on the 4qA haplotype, which provides a functional polyadenylation signal that stabilizes the DUX4 transcript in muscle. Without this 4qA background (for example on the 4qB haplotype), the contracted allele does not effectively produce toxic DUX4, and disease is not manifested. The other loci listed (3p14, 6p21, Xq28) are not associated with this permissive haplotype for FSHD1.

FSHD1 hinges on a permissive haplotype at the distal 4q subtelomere. In this disorder, the disease-causing event is a contraction of the D4Z4 repeat array on chromosome 4q35. However, the contraction only leads to pathogenic expression if it occurs on the 4qA haplotype, which provides a functional polyadenylation signal that stabilizes the DUX4 transcript in muscle. Without this 4qA background (for example on the 4qB haplotype), the contracted allele does not effectively produce toxic DUX4, and disease is not manifested. The other loci listed (3p14, 6p21, Xq28) are not associated with this permissive haplotype for FSHD1.

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