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Quiz Page May 2015 American Journal of Kidney Diseases

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1 Quiz Page May 2015 American Journal of Kidney Diseases
Varun Agrawal, MD, Pamela C. Gibson, MD, Amrik Sahota, PhD, Samih H. Nasr, MD  American Journal of Kidney Diseases  Volume 65, Issue 5, Pages A17-A19 (May 2015) DOI: /j.ajkd Copyright © 2015 National Kidney Foundation, Inc. Terms and Conditions

2 Figure 1 Light microscopy of hematoxylin and eosin–stained kidney biopsy specimen under (A) standard illumination and (B) as viewed under polarized light (original magnification, ×200). American Journal of Kidney Diseases  , A17-A19DOI: ( /j.ajkd ) Copyright © 2015 National Kidney Foundation, Inc. Terms and Conditions

3 Figure 2 Ethidium bromide–stained agarose gel shows result of polymerase chain reaction (PCR) amplification and Tru91 digestion of a 292 base pair (bp) amplicon spanning the splice donor site upstream of intron 4 of APRT from DNA isolated from the patient and her family members. A single T insertion at this splice donor site (TGgtaa to TGgttaa [IVS4+2insT]) introduces a restriction site recognized by Tru91 that consequently cuts the amplicon into 206- and 86-bp segments. This mutation was identified in both alleles in the proband (RO), her identical twin sister (RI), and an elder sister (S1). The mutation was present in only 1 allele in her mother, father, and the eldest sister (S2). American Journal of Kidney Diseases  , A17-A19DOI: ( /j.ajkd ) Copyright © 2015 National Kidney Foundation, Inc. Terms and Conditions

4 Figure 3 Pedigree shows the transmission of adenine phosphoribosyltransferase deficiency in the family. Completely shaded circles indicate homozygotes; half-shaded circles or squares, heterozygote women and men, respectively; “?” refers to the possibility that the proband’s maternal grandfather and paternal grandfather were heterozygotes. American Journal of Kidney Diseases  , A17-A19DOI: ( /j.ajkd ) Copyright © 2015 National Kidney Foundation, Inc. Terms and Conditions


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