RGD Reference Report - Genome-wide linkage analysis of inherited hydrocephalus in the H-Tx rat. - Rat Genome Database

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Genome-wide linkage analysis of inherited hydrocephalus in the H-Tx rat.

Authors: Jones, HC  Depelteau, JS  Carter, BJ  Lopman, BA  Morel, L 
Citation: Jones HC, etal., Mamm Genome 2001 Jan;12(1):22-6.
RGD ID: 68693
Pubmed: PMID:11178739   (View Abstract at PubMed)

Inherited hydrocephalus in humans has received very little attention, most probably because known occurrences are sporadic and systematic investigation is difficult. The H-Tx rat, one of a number of rodent strains with inherited hydrocephalus, has a complex inheritance with more than one postulated susceptibility gene and 40% penetrance. The aim of this study was to perform a genome-wide scan on backcross progeny derived from H-Tx and Fisher F344 rats, to identify genomic regions associated with hydrocephalus. Penetrance of hydrocephalus in (H-Tx x F344) F1 x H-Tx was 12.3%. All severely hydrocephalic progeny (n = 185) and a subset of normal progeny (n = 128) were screened with 110 simple sequence length polymorphisms (SSLPs) with 83% coverage of the genome. A significant susceptibility locus was found on chromosome (Chr) 11 (LOD = 3.1). Three loci with suggestive linkage were found on Chr 17 (LOD = 2.4), on Chr 9 (LOD = 1.94), and on Chr 19 (LOD = 1.91). For the loci on Chr 11 and 19, hydrocephalus was associated with the heterozygous genotype, while the other two were recessive. Although none of the four loci was essential for the hydrocephalic phenotype, the additive effects of two, three, or four loci increased the penetrance in a linear fashion. Altogether these four loci accounted for 13.5% of the total variance. It is concluded that hydrocephalus in the H-Tx rat is associated with two, possibly four genetic loci, but that there may be additional undefined genetic and environmental influences.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Bvd6Rathydrocephalus  IAGP  RGD 
HTX/HcjRathydrocephalus  IAGP  RGD 

Phenotype Annotations    Click to see Annotation Detail View

Mammalian Phenotype

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Bvd6Rathydrocephaly  IAGP  RGD 
Objects Annotated

QTLs
Bvd6  (Brain ventricular dilatation QTL 6)

Strains
F344  (Fischer)
HTX/Hcj  (NA)

Objects referenced in this article
Marker D17Mit4 D17Mit4 Rattus norvegicus
Marker D19Rat12 D19Rat12 Rattus norvegicus
Marker D17Rat151 D17Rat151 Rattus norvegicus
Marker D9Rat2 D9Rat2 Rattus norvegicus
Marker D9Rat13 D9Rat13 Rattus norvegicus
Marker D11Rat6 D11Rat6 Rattus norvegicus
Marker D9Rat1 D9Rat1 Rattus norvegicus
Marker D19Rat9 D19Rat9 Rattus norvegicus
Marker D17Rat42 D17Rat42 Rattus norvegicus
Marker D11Rat28 D11Rat28 Rattus norvegicus
Marker D17Rat113 D17Rat113 Rattus norvegicus
Marker D9Rat100 D9Rat100 Rattus norvegicus
Marker D19Rat28 D19Rat28 Rattus norvegicus
Marker D9Rat88 D9Rat88 Rattus norvegicus
Marker D11Rat46 D11Rat46 Rattus norvegicus
Marker D17Rat59 D17Rat59 Rattus norvegicus
Marker D17Rat83 D17Rat83 Rattus norvegicus
Marker D11Rat93 D11Rat93 Rattus norvegicus
Marker D17Rat65 D17Rat65 Rattus norvegicus
Marker D17Rat130 D17Rat130 Rattus norvegicus
Marker D17Rat127 D17Rat127 Rattus norvegicus
Marker D19Rat90 D19Rat90 Rattus norvegicus
Marker D11Rat73 D11Rat73 Rattus norvegicus
Marker D11Rat68 D11Rat68 Rattus norvegicus
Marker D11Rat89 D11Rat89 Rattus norvegicus
Marker D11Rat91 D11Rat91 Rattus norvegicus
Marker D17Rat154 D17Rat154 Rattus norvegicus
Marker D11Rat117 D11Rat117 Rattus norvegicus
Strain HTX/HcjRrrc null Rattus norvegicus

Additional Information