x linked recessive

How Are These Disorders Diagnosed Histologically?

Histological diagnosis of X-linked recessive disorders involves various techniques, including:
1. Immunohistochemistry: This technique uses antibodies to detect specific proteins within tissue sections. For instance, the absence of dystrophin protein in muscle biopsies can confirm Duchenne Muscular Dystrophy.
2. Histochemical Staining: Specific stains can highlight abnormalities in tissue structure and composition. In Hemophilia A, histochemical staining can reveal the absence of factor VIII in blood vessels.
3. Electron Microscopy: This allows for high-resolution imaging of tissue ultrastructure, providing detailed insights into cellular abnormalities.

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