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5 records found


Taxon: Human

Chromosome: 03

Location:

Gene: UPD

Description: Three cases of uniparental disomy of chromosome 3 have been reported (Hoffman TL et al, 2007; Xiao P et al, 2006; Fassihi H et al, 2006). In all three cases the patients presented as homozygotes for rare mutations, with no additional phenotype resulting from isodisomy of chromosome 3. Isodisomy for either the paternal or the maternal chromosome has been reported, indicating that there are no developmentally important imprinted genes on chromosome 3.

Category: Disomy (UPD)

Record:1240 Last Modified 5/3/2010

Taxon: Human

Chromosome: 03

Location: 3p12-p13

Gene: ATXN7 (previously SCA7)

Description: ATXN7 (SCA7) is the gene for spinocerebellar ataxia 7. Fathers, on average, transmit significantly larger alleles to their offspring, but mothers appear to be more consistent in passing on expanded alleles (Gouw LG et al, 1998).

Category: Other

Links: Gene   Record:242 Last Modified 4/27/2010

Taxon: Human

Chromosome: 03

Location: 3p14

Gene: Obesity, BMI

Description: A genome-wide linkage analysis for obesity (BMI) in Caucasians "suggested" paternal linkage (LOD = 2.20) at 3p14 compared to maternal linkage (LOD = 0.37; Guo YF et al, 2006).

Category: Parental effect

Record:1237 Last Modified 4/30/2010

Taxon: Human

Chromosome: 03

Location: 3p21.31

Gene: RASSF1 (RASSF1A)

Description: It was claimed that RASSFI (RASSF1A; Ras association (RalGDS/AF-6) domain family member 1) is imprinted in human first trimester placenta, but no specific data were presented to support this claim (Guilleret I et al, 2009.

Category: Other

Links: Gene   Record:1227 Last Modified 5/31/2011

Taxon: Human

Chromosome: 03

Location: 3q24

Gene: Obesity, BMI

Description: A genome-wide linkage analysis for obesity (BMI) in Caucasians "suggested" maternal linkage (LOD = 1.97) at 3q24 compared to paternal linkage (LOD = 0.07; Guo YF et al, 2006).

Category: Parental effect

Record:1238 Last Modified 4/30/2010

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