Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings
作者:
Alessandra Ferlini,
Fabrizio Salvi,
Antonino Uncini,
Jasmin El‐Chami,
Pia Winter,
Klaus Altland,
Monica Repetto,
Massimo Littardi,
Andrea Campoleoni,
Paolo Vezzoni,
Maria Cristina Patrosso,
期刊:
Clinical Genetics
(WILEY Available online 1996)
卷期:
Volume 49,
issue 1
页码: 10-14
ISSN:0009-9163
年代: 1996
DOI:10.1111/j.1399-0004.1996.tb04317.x
出版商: Blackwell Publishing Ltd
关键词: hereditary amyloidosis;homozygosis;transthyretin
数据来源: WILEY
摘要:
Transthyretin gene point mutations cause hereditary amyloidosis with an autosomal dominant pattern of inheritance. The disease usually manifests itself in heterozygous patients, although a few homozygotes have been reported. We describe two unrelated patients carrying the Leu64 mutation, one of whom presents a homozygous genotype (Family B). Homozygosity was confirmed by sequence analysis, RG‐PCR and double one‐dimensional electrophoresis of the plasma protein. Although the clinical picture of the homozygous patient of Family B was more severe than that shown by the heterozygous members of Family A, the variability often displayed by FAP patients does not allow any firm conclusion about the role of homozygosity in the seriousness of the dise
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