A prospective evaluation of the transthyretin Ile 122 allele frequency in an African-American population

Taro Yamashita, Kamran Hamidi Asl, Masahide Yazaki, Merrill Benson

Research output: Contribution to journalArticle

52 Citations (Scopus)

Abstract

Transthyretin Val122Ile is one of greater than 80 mutations in transthyretin (TTR) that are associated with hereditary amyloidosis. Retrospective studies have shown a prevalence of this mutation as high as 3.9% in African-Americans. The present study was undertaken to determine in a prospective fashion the prevalence of the TTR Val122Ile allele in African-Americans in a Midwestern American city. DNA was isolated from cord bloods collected at the time of birth in the County hospital of Indianapolis, Indiana. Samples were identified only as to ethnic origin of the mother. Analysis was performed by PCR amplification of TTR exon 4 followed by SSCP and RFLP. Cord bloods from 1,973 children born at the County hospital were analyzed. Thirty of 1,000 DNA samples from African-American newborns were positive for TTR Val122Ile (3%). Two of 453 DNA samples from Caucasian newborns were positive (0.44%). Zero of 490 DNA samples from newborns of Hispanic mothers and 0 of 30 from newborns with mothers classified as other (including Asian) were positive. This prospective study demonstrates that 3% of newborns of African-American women in an urban population have the TTR Val122Ile mutation which is associated with late-onset cardiomyopathy. The degree of penetrance of this mutation at the clinical level has not yet been determined.

Original languageEnglish
Pages (from-to)127-130
Number of pages4
JournalAmyloid
Volume12
Issue number2
DOIs
StatePublished - Jun 2005

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Prealbumin
Gene Frequency
African Americans
Newborn Infant
Population
County Hospitals
Mutation
DNA
Mothers
Fetal Blood
Familial Amyloidosis
Single-Stranded Conformational Polymorphism
Urban Population
Penetrance
Cardiomyopathies
Hispanic Americans
Restriction Fragment Length Polymorphisms
Exons
Retrospective Studies
Alleles

Keywords

  • African-American
  • Amyloid
  • Hereditary
  • Transthyretin

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medicine(all)

Cite this

A prospective evaluation of the transthyretin Ile 122 allele frequency in an African-American population. / Yamashita, Taro; Asl, Kamran Hamidi; Yazaki, Masahide; Benson, Merrill.

In: Amyloid, Vol. 12, No. 2, 06.2005, p. 127-130.

Research output: Contribution to journalArticle

Yamashita, Taro ; Asl, Kamran Hamidi ; Yazaki, Masahide ; Benson, Merrill. / A prospective evaluation of the transthyretin Ile 122 allele frequency in an African-American population. In: Amyloid. 2005 ; Vol. 12, No. 2. pp. 127-130.
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