Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR

Article Abstract:

Mutations in the duplicated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, have been identified through use of long-range PCR. A PKD1-specific primer in intron 1, an about 13.6pkb PCR product with exons 2-15 of the PKD1 gene, has been used to look for mutations using direct sequence analysis. Almost the the entire gene can be screened for mutations. Seven novel mutations were found in a screening of 42% of the PKD1-coding region in each patient, two deletion, one single-base insertion, four nucleotide substitutions. The detection rate was 29%. Five of the mutations would be expected to cause a prematurely truncated protein. Two coding polymorphisms and 18 silent ones were seen.

Polycystic kidney disease

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Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter

Article Abstract:

Primary, or true, autosomal recessive microcephaly (MCPH1) is inherited as an autosomal recessive trait and maps to chromosome 8p22-pter. It has been found to be genetically heterogeneous by analyzing nine consanguineous families with primary microcephaly. Two consanguineous families of Pakistani origin were studied in the identification of the genetic locus, MCPH1, between D8S1824 and D8S1825 using autozygosity mapping.

Pakistan, Usage, Chromosome mapping, Microcephaly

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Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

Article Abstract:

The quantification of homozygosity in consanguineous individuals with autosomal recessive disease is presented. The data shows that prolonged parental inbreeding has led to a background level of homozygosity increased ~5% over and above that predicted by simple models of consanguinity.

Science & research, Health aspects, Risk factors, Chromosome abnormalities, Consanguinity, Dominance (Genetics)

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