There were shared alleles in four polymorphic markers of the MCKD1 locus, and there was full co-segregation between the shared haplotype and affected status [Figure 2]b.
As a result, we confirmed the diagnosis of MCKD1, and this established method could be successfully applied to detect the MUC1 -VNTR single cytosine insertion.
MCKD1 is classified into the recently termed group of ADTKD.
For most genetic laboratories that only occasionally test MCKD1 patients, the TA cloning method is an alternative practical detection method with flexibility.
Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region.
Refinement of the critical region for MCKD1 by detection of transcontinental haplotype sharing.
Telomeric refinement of the MCKD1 locus on chromosome 1q21.