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A Family with Isolated Hyperparathyroidism Segregating a Missense MEN1 Mutation and Showing Loss of the Wild-Type Alleles in the Parathyroid Tumors  Bin.

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Presentation on theme: "A Family with Isolated Hyperparathyroidism Segregating a Missense MEN1 Mutation and Showing Loss of the Wild-Type Alleles in the Parathyroid Tumors  Bin."— Presentation transcript:

1 A Family with Isolated Hyperparathyroidism Segregating a Missense MEN1 Mutation and Showing Loss of the Wild-Type Alleles in the Parathyroid Tumors  Bin T. Teh, Christopher T. Esapa, Richard Houlston, Ulla Grandell, Filip Farnebo, Magnus Nordenskjöld, Christopher J. Pearce, David Carmichael, Catharina Larsson, Philip E. Harris  The American Journal of Human Genetics  Volume 63, Issue 5, Pages (November 1998) DOI: /302097 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

2 Figure 1 a, Pedigree showing the family with autosomal dominantly inherited isolated hyperparathyroidism. Blackened symbols indicate affected family members, and unblackened symbols indicate unaffected family members. The gray-shaded symbol indicates that the individual (I-1) probably is affected, and the symbols with a question mark (?), in generation IV, indicate that the individuals are still at risk. The results from mutation analysis using restriction cleavage are shown below the pedigree. b, Illustration showing the HindIII site created by the E255K mutation. The American Journal of Human Genetics  , DOI: ( /302097) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Autoradiograms showing LOH in the whole of chromosome 11 in parathyroid tumor 1 from patient II-3 (D11S419, D11S787, and D11S1378) and in two of the three tumors from patient III-4 (HBB, D11S956, PYGM, INT2, and TYR). Lane B, Leukocyte DNA. Lane T, Tumor DNA. The American Journal of Human Genetics  , DOI: ( /302097) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

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