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1.
Genome ; 43(4): 649-55, 2000 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-10984177

RESUMO

Fifty-four RAPD (random amplified polymorphic DNA) markers and 6 SSRs (simple sequence repeats) were included in a molecular marker map with 120 RFLPs (restriction fragment length polymorphisms) and 7 isozyme genes previously constructed using the offspring of a cross between the almond (Prunus amygdalus) cultivars 'Ferragnès' and 'Tuono'. Only highly reproducible RAPDs segregating 1:1 were used. To identify these markers, a total of 325 primers were screened, from which 41 produced RAPDs useful for mapping. Polymorphism was detected in six of the eight Prunus SSRs (simple sequence repeats) studied, thus enabling these to be mapped. All markers were placed on the 8 linkage groups previously identified. The number of new markers included in the map of 'Ferragnès' was 33 for a total of 126, and 30 in the map of 'Tuono' for a total of 99. The sizes of the maps of 'Ferragnès' (415 cM) and 'Tuono' (416 cM) were similar, representing a 5% increase over the maps constructed solely with isozymes and RFLPs. The estimated total size of the almond map was of 457 cM. Some markers were placed in zones with low density of markers and others in the extreme of linkage groups. The use of RAPD markers to complete genetic maps constructed with transferable markers is discussed.


Assuntos
Genes de Plantas , Ligação Genética , Sequências Repetitivas de Ácido Nucleico , Rosales/genética , Mapeamento Cromossômico , Cruzamentos Genéticos , Isoenzimas/genética , Modelos Genéticos , Polimorfismo Genético , Polimorfismo de Fragmento de Restrição , Técnica de Amplificação ao Acaso de DNA Polimórfico
2.
Ophthalmic Genet ; 17(2): 53-7, 1996 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-8832721

RESUMO

Familial exudative vitreoretinopathy (FEVR) is a disorder characterised by peripheral retinal vascularisation with subsequent traction of retinal vessels and detachment. Recently, autosomal dominant FEVR (ad FEVR) has been mapped to 11q13 by linkage in four northern European families. We describe a large consanguineous Asian family in which the severity of the proband's eye disease suggested homozygosity for a disease allele. Thirty family members were assessed by ophthalmological examination and fluorescein angiography. Thirteen had unequivocal features of FEVR. A further two were classified as unknown. Two point linkage analysis for DIIS533 and FEVR generated a lod score of 5.55 at a recombination fraction of 0.00. This supports autosomal dominant inheritance and demonstrates genetic homogeneity for the ad FEVR disease locus. The severely affected proband was heterozygous for alleles at this closely linked locus. Other causes, including non-genetic factors, should be considered to explain the extreme variability characteristic of ad FEVR.


Assuntos
Cromossomos Humanos Par 11 , Consanguinidade , Oftalmopatias Hereditárias/genética , Ligação Genética/genética , Doenças Retinianas/genética , Corpo Vítreo/patologia , Adolescente , Adulto , Idoso , Alelos , Ásia , Criança , Pré-Escolar , DNA/análise , Exsudatos e Transudatos , Oftalmopatias/diagnóstico , Oftalmopatias/genética , Oftalmopatias Hereditárias/diagnóstico , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Doenças Retinianas/diagnóstico
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