Literature DB >> 2773939

Segregation of genetic hemochromatosis indexed by latent capacity of transferrin.

I B Borecki1, D C Rao, J Yaouanq, J M Lalouel.   

Abstract

A genetic analysis of the segregation of hereditary hemochromatosis, indexed by the measurement of latent capacity of transferrin (LCAP), was undertaken in an ascertained sample of 147 pedigrees from Brittany, France. There were no mean differences by sex in the distribution of LCAP in the control sample, although in the family data there was a higher representation of males with low values than of females with low values, consistent with the higher proportion of affected males. The results of bivariate segregation analysis revealed no systematic evidence for heterozygous expression either in the biochemical domain of LCAP abnormalities or in increased liability to overt symptomatic disease. Joint consideration of the quantitative variable with hemochromatosis affection status allowed clear resolution of a recessive single-gene inheritance pattern in these families.

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Year:  1989        PMID: 2773939      PMCID: PMC1683417     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


  14 in total

1.  The determination of iron in blood plasma or serum.

Authors:  W N RAMSAY
Journal:  Clin Chim Acta       Date:  1957-06       Impact factor: 3.786

2.  Idiopathic hemochromatosis. Demonstration of recessive transmission and early detection by family HLA typing.

Authors:  M Simon; M Bourel; B Genetet; R Fauchet
Journal:  N Engl J Med       Date:  1977-11-10       Impact factor: 91.245

3.  A unified model for complex segregation analysis.

Authors:  J M Lalouel; D C Rao; N E Morton; R C Elston
Journal:  Am J Hum Genet       Date:  1983-09       Impact factor: 11.025

4.  HLA typing in idiopathic hemochromatosis: distinction between homozygotes and heterozygotes with biochemical expression.

Authors:  M L Bassett; J W Halliday; L W Powell
Journal:  Hepatology       Date:  1981 Mar-Apr       Impact factor: 17.425

5.  Serum ferritin as a possible marker of the hemochromatosis allele.

Authors:  C Beaumont; M Simon; R Fauchet; J P Hespel; P Brissot; B Genetet; M Bourel
Journal:  N Engl J Med       Date:  1979-07-26       Impact factor: 91.245

6.  Hereditary hemochromatosis. Phenotypic expression of the disease.

Authors:  G E Cartwright; C Q Edwards; K Kravitz; M Skolnick; D B Amos; A Johnson; L Buskjaer
Journal:  N Engl J Med       Date:  1979-07-26       Impact factor: 91.245

7.  Idiopathic hemochromatosis: a study of biochemical expression in 247 heterozygous members of 63 families: evidence for a single major HLA-linked gene.

Authors:  M Simon; R Fauchet; J P Hespel; C Beaumont; P Brissot; B Hery; Y Hita De Nercy; B Genetet; M Bourel
Journal:  Gastroenterology       Date:  1980-04       Impact factor: 22.682

8.  Hereditary hemochromatosis. Analysis of laboratory expression of the disease by genotype in 18 pedigrees.

Authors:  M M Dadone; J P Kushner; C Q Edwards; D T Bishop; M H Skolnick
Journal:  Am J Clin Pathol       Date:  1982-08       Impact factor: 2.493

9.  Prevalence of iron overload in central Sweden.

Authors:  K S Olsson; B Ritter; U Rosén; P A Heedman; F Staugård
Journal:  Acta Med Scand       Date:  1983

10.  Genetic linkage between hereditary hemochromatosis and HLA.

Authors:  K Kravitz; M Skolnick; C Cannings; D Carmelli; B Baty; B Amos; A Johnson; N Mendell; C Edwards; G Cartwright
Journal:  Am J Hum Genet       Date:  1979-09       Impact factor: 11.025

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  3 in total

Review 1.  Current perspectives on the genetics of unipolar depression.

Authors:  S O Moldin; T Reich; J P Rice
Journal:  Behav Genet       Date:  1991-05       Impact factor: 2.805

2.  Combined segregation and linkage analysis of genetic hemochromatosis using affection status, serum iron, and HLA.

Authors:  I B Borecki; G M Lathrop; G E Bonney; J Yaouanq; D C Rao
Journal:  Am J Hum Genet       Date:  1990-09       Impact factor: 11.025

3.  A gene-based recessive diplotype exome scan discovers FGF6, a novel hepcidin-regulating iron-metabolism gene.

Authors:  Shicheng Guo; Shuai Jiang; Narendranath Epperla; Yanyun Ma; Mehdi Maadooliat; Zhan Ye; Brent Olson; Minghua Wang; Terrie Kitchner; Jeffrey Joyce; Peng An; Fudi Wang; Robert Strenn; Joseph J Mazza; Jennifer K Meece; Wenyu Wu; Li Jin; Judith A Smith; Jiucun Wang; Steven J Schrodi
Journal:  Blood       Date:  2019-02-27       Impact factor: 22.113

  3 in total

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