IgA nephropathy (IgAN) is a complex trait determined by genetic and environmental factors. Most IgAN patients exhibit a characteristic undergalactosylation of the O-glycans of the IgA1 hinge region, which promotes formation and glomerular deposition of immune complexes. It is not known whether this aberrant glycosylation is the result of an acquired or inherited defect, or whether the presence ...

linked and/or gene-based molecular markers have been used widely in marker-assisted selection (mas) to differentiate resistant and susceptible genotypes. resistance to meloidogyne spp. in beta vulgaris l. is mediated by a single dominant gene (r6m-1). using allele-specific primers (asps), an snp marker harboring a single nucleotide polymorphism (a/g), linked to the resistance gene was developed...

Channelopathies are often linked to defective protein folding and trafficking. Among them, the calcium channelopathy episodic ataxia type-2 (EA2) is an autosomal dominant disorder related to mutations in the pore-forming Ca(v)2.1 subunit of P/Q-type calcium channels. Although EA2 is linked to loss of Ca(v)2.1 channel activity, the molecular mechanism underlying dominant inheritance remains uncl...

OBJECTIVE To evaluate a family with autosomal dominant optic atrophy, which has been previously linked to the Kidd blood group. DESIGN Clinical evaluation with the assessment of visual acuity, color vision, and optic nerve appearance to determine affection status. Linkage analysis using polymorphic DNA markers. RESULTS Visual acuities ranged from 20/20 to 6/200. Although linkage was exclude...

Several publications in recent years have given conflicting reports upon the inheritance of shank color. Yellow shank color has been reported to be inherited in a simple Mendelian fashion, the sex-linked gene for yellow shank color ( U ) being dominant to its allele (y) , the gene for blue shank color. In contrast to this, the gene for yellow shank color has been reported to be autosomal, the r...

Rust, incited by Uromyces appendiculatus^ is a major disease in common bean {Phaseolus vulgaris L,). Plant growth habit is also an important trait. Indeterminate growth habit was first reported to be controlled by a single dominant gene (Fin) (Lamprecht, 1935). Molecular markers such as isozymes, RFLP, and RAPD, have been used to tag genes for many traits, particularly disease resistance in sev...

BACKGROUND Huntington's disease (HD) is an autosomal dominant disorder, typically characterized by chorea due to a trinucleotide repeat expansion in the HTT gene, although the clinical manifestations of patients with juvenile HD (JHD) are atypical. CASE PRESENTATION A 17-year-old boy with initial presentation of tics attended our clinic and his DNA analysis demonstrated mutation in the HTT ge...

cutis laxa is rare and hetrogenous group of disorders related to abnormalities in elastic tissue. it may be autosomal recessive, autosomal dominant, x linked or acquired. acquired cutis laxa has developed after a febrile illness, inflammatory skin disease such a lupus eryhymatosis or erythema multiform, amyloidosis, hypersensitivity reaction to penicillin and in infants born from women who were...

Avian sex determination is chromosomal; however, the underlying mechanisms are not yet understood. There is no conclusive evidence for either of two proposed mechanisms: a dominant genetic switch or a dosage mechanism. No dominant sex-determining gene on the female-specific W chromosome has been found. Birds lack inactivation of one of the Z chromosomes in males, but seem to compensate for a do...

GENETIC DISORDERS ARE TRADITIONALLY CATEGORIZED INTO THREE MAIN GROUPS: single-gene, chromosomal, and multifactorial disorders. Single gene or Mendelian disorders result from errors in DNA sequence of a gene and include autosomal dominant (AD), autosomal recessive (AR), X-linked recessive (XR), X-linked dominant and Y-linked (holandric) disorders. Chromosomal disorders are due to chromosomal ab...