Abstract：
:A mutation in transthyretin (TTR Asn 90) has been identified in the Portuguese and German populations. This variant has a lower pI and was found by screening analyses in 2/4,000 German subjects and in 4/1,200 Portuguese by using either double one-dimensional (D1-D) electrophoresis with isoelectric focusing (IEF) or hybrid isoelectric focusing in immobilized pH gradient (HIEF) as the final separation step. The Portuguese population sample was from the area where TTR Met 30-associated familial amyloidotic polyneuropathy (FAP) prevails, and it was divided into (a) a group of 500 individuals belonging to FAP kindreds and (b) a group of 700 collected at random. HIEF showed two particular situations: (1) one case, from an FAP kindred, was simultaneously carrier of the Met 30 substitution and the acidic variant, and (2) one individual, from the randomly selected Portuguese sample, had only the acidic monomer. Comparative peptide mapping, by HPLC, of the acidic variant carriers and of normal TTR showed the presence of an abnormal tryptic peptide, not present in the normal TTR digests, with an asparagine-for-histidine substitution at position 90 explained by a single base change of adenine for cytosine in the histidine codon. This was confirmed at the DNA level by RFLP analyses of PCR-amplified material after digestion with SphI and BsmI. In all carriers of the Asn 90 substitution, no indicators were found for an association with traits characteristic for FAP.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Saraiva MJ,Almeida MR,Alves IL,Moreira P,Gawinowicz M,Costa PP,Rauh S,Banhzoff A,Altland Ksubject
Has Abstractpub_date
1991-05-01 00:00:00pages
1004-8issue
5eissn
0002-9297issn
1537-6605journal_volume
48pub_type
杂志文章abstract：:We performed a genomewide linkage analysis of six separate measurements of body mass index (BMI) taken over a span of 28 years, from 1971 to 1998, in the Framingham Heart Study. Variance-components linkage analysis was performed on 330 families, using 401 polymorphic markers. The number of individuals with data at eac...
journal_title：American journal of human genetics
pub_type： 杂志文章
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journal_title：American journal of human genetics
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journal_title：American journal of human genetics
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更新日期：1988-08-01 00:00:00
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journal_title：American journal of human genetics
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pub_type： 杂志文章
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1995-03-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
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更新日期：1980-07-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
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pub_type： 杂志文章
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更新日期：2003-02-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1992-04-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1989-12-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
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更新日期：2009-11-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
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更新日期：1998-08-01 00:00:00
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pub_type： 杂志文章
doi：10.1016/j.ajhg.2011.02.009
更新日期：2011-04-08 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/509881
更新日期：2006-12-01 00:00:00
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journal_title：American journal of human genetics
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journal_title：American journal of human genetics
pub_type： 杂志文章
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journal_title：American journal of human genetics
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pub_type： 杂志文章,meta分析
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1988-11-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
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更新日期：2004-01-01 00:00:00
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journal_title：American journal of human genetics
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journal_title：American journal of human genetics
pub_type： 杂志文章
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更新日期：1984-11-01 00:00:00
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pub_type： 杂志文章
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更新日期：1997-01-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章,评审
doi：10.1016/j.ajhg.2011.10.004
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