Age, area, and acheiropody

Morton, N. E.; Barbosa, C. A. A.

doi:10.1007/bf00281696

Cited by 5 publications

(5 citation statements)

References 3 publications

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“…The families included in this study derive from the São Paulo (pedigree 1) and Santa Catarina (pedigrees 2 and 3) states of Brazil, near the area estimated, by Morton and Barbosa (1981), as being the most likely center of origin of the disease mutation. An extended pedigree with a total of five cases of acheiropodia (four living) was ascertained in the state of Sã o Paulo ( fig.…”

Section: Figurementioning

confidence: 99%

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A Minimalist Approach to Gene Mapping: Locating the Gene for Acheiropodia, by Homozygosity Analysis

Escamilla

DeMille

Benavides

et al. 2000

The American Journal of Human Genetics

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Acheiropodia is an autosomal recessive disease that results in hemimelia (lack of formation of the distal extremities). We performed a complete genome screen of seven members of an extended pedigree that included three siblings with acheiropodia. Homozygosity mapping was used to identify regions most likely to harbor the gene for acheiropodia in this pedigree. In these two key regions (14p and 7q), further genotyping of one additional affected member of this pedigree plus seven additional unaffected siblings provided evidence, through linkage analysis, that the 7q36 region contains the acheiropodia gene. In this region, a maximum two-point LOD score of 3.81 (4.2 with multipoint analysis) was achieved, and a homozygous haplotype spanning a region of 11.7 cM was seen in all affected in this pedigree. Finally, genotypic analysis of two additional cases of acheiropodia with no known relation to the other samples revealed homozygous sharing of a portion of the same haplotype on 7q36, which reduces the chromosomal location of the acheiropodia gene to an 8.6-cM region. Localization of this gene, at the screening level, by use of data from only three affected subjects, provides an example of how certain genes may be mapped by use of a minimal number of affected cases.

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Section: Figurementioning

confidence: 99%

“…Ϫ7 ∼ 3 # 10 The mutation responsible for this phenotype is presumed to have originated in Brazil ∼20 generations ago (Morton and Barbosa 1981).…”

mentioning

confidence: 99%

A Minimalist Approach to Gene Mapping: Locating the Gene for Acheiropodia, by Homozygosity Analysis

Escamilla

DeMille

Benavides

et al. 2000

The American Journal of Human Genetics

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“…One exam ple is the treatment of different degrees of relationship R to carriers. The equations given in Morton and Barbosa [1981] hold true only for R = 0 or 1. This problem has been discussed in Morton et al [1984] but is hard to solve in the general case.…”

Section: Discussionmentioning

confidence: 99%

“…The coefficient of relationship (R) was taken as one. Sam ple size for given X, Y and R is N. The model used for analysis has been described by Morton and Barbosa [1981] and assumes isotropic migration. The distribution of carrier descendants is taken proportional to…”

Section: Methodsmentioning

confidence: 99%

Spatial Distribution of the Gene for Infantile Genetic Agranulocytosis

Iselius

Gustavson

1984

Hum Hered

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“…In this paper we present evidence of two founders in two different regions of northern Sweden. We have also tried to estimate the rate of migration by studying the dispersion of carriers of the gene for the juvenile type of Gaucher disease using a theory developed by Morton 8z Barbosa (9).…”

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The Distribution of the Gene for the Juvenile Type of Gaucher Disease in Sweden

1989

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A study of 30 Swedish families with the Norrbottnian type of Gaucher disease provides evidence for two clusters of the gene, one close to Overkalix in the northern part of the county of Norrbotten and the other in the vicinity of Arvidsjaur in the southern part of the same county. The gene for Gaucher disease in Overkalix appeared later than that in Arvidsjaur. A founder moving from Arvidsjaur to Overkalix during the seventeenth century or two different mutations are the most likely explanations of this finding.

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Age, area, and acheiropody

Cited by 5 publications

References 3 publications

A Minimalist Approach to Gene Mapping: Locating the Gene for Acheiropodia, by Homozygosity Analysis

A Minimalist Approach to Gene Mapping: Locating the Gene for Acheiropodia, by Homozygosity Analysis

Spatial Distribution of the Gene for Infantile Genetic Agranulocytosis

The Distribution of the Gene for the Juvenile Type of Gaucher Disease in Sweden

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