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One example is a mutation in the gene, which encodes

We previously reported the localization of the MDM gene to chromosome 8qter by linkage analysis in two large consanguineous families (families 1 and 2), within an interval of at least 3 cM, but without definition of the telomeric limit(). We refined this interval using a combination of homozygosity mapping and linkage disequilibrium analysis in 19 families. Mutation analysis of candidate genes in the interval revealed three different homozygous mutations in the () gene, encoding SLURP-1 (secreted Ly-6/uPAR

() mutations in MDM patients. A homozygous deletion () in nucleotide 82 leading to a frameshift and a premature stop codon is associated with the first haplotype (Fig. 1). The second haplotype () is associated with a splice site mutation, and the third () with a point mutation (C286T), which changes arginine at position 96 to a stop codon. Arrowheads indicate the positions of the mutations. Parents heterozygous in all cases. Sequences of new developed primers

The drawing depicts progeny of a mother that was chromosomally homozygous for a molecular null mutation in a gene () that confers no obvious phenotype on its own. The mother was also transgenic for an extrachromosomal array expresses a GFP marker and a wild-type version of . Some of the progeny have inherited the array and are and green fluorescent, and others have not inherited the array and are therefore minus for and for the GFP marker. Being homozygous for the mutation in has no apparent effect on gr

Hybridization of BAC filters with the 5′-most (panel A) and 3′-most (panel B) sequences of hABC-1 cDNA. As described in Methods, filters containing 152 BAC colonies were with probes representing either the 5′-most or the 3′-most sequence of the hABC-1 transcript. BACs 1, 2, and 5 contained both the 5′ and 3′ ends of the hABC-1 transcript, suggesting the presence of a full-length genomic clone and localizing hABC-1 to a 250 kb region of 9q31. Each BAC was also positive for D9S53, providing furthe

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array mutation habc homozygous progeny