Tác giả: Deilamani, Faravareh Khordadpoor; Người hướng dẫn: Akbari, Mohammad Taghi; Người tham gia: - (2022)
Mucopolysaccharidoses IVA is an autosomal recessive lysosomal storage disease resulting in skeletal and cartilage dysplasia. Hematopoietic stem cell transplantation is a good therapeutic option for MPS IV. Here we report the first application of PGD test for MPS IVA and HLA with the purpose of HSCT for the affected son in a family with consanguineous marriage. Haplotype analysis of linked STR markers in GALNS gene and HLA loci as well as variant detection by cycle sequencing were included in our PGD test.
