dominant polycystic kidney disease (adult polycystic kidney disease, Potter type III disease) is the fourth-most common cause of end-stage renal disease.
dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene.
HSAN can be transmitted as an autosomal
dominant (AD) or autosomal
recessive (AR) trait.
Nevertheless, the clinical presentation suggests a possible association with loss of DMP1, and therefore may indicate that the child has the recently identified autosomal
recessive type of HR.
1987a and b), Chrysocyon brachyurus (2n = 76), that is considered the oldest South American canid, lost the autosomal
pair number 28 in comparison to Speothos venaticus (2n = 74).
Current knowledge on cyst initiation and development mainly comes from investigations on autosomal
dominant polycystic kidney disease (ADPKD), in which cystic pathology is believed to be the result of abnormal cell proliferation and deregulated apoptosis, increased secretion of fluids into the tubular lumen, irregular cell-matrix interactions, and defective cellular polarity.
In this issue, Phadke and colleagues (11) have studied the locus heterogeneity and mutational spectra of eight patients with autosomal
recessive infantile malignant osteopetrosis; six patients had mutations in TCIRG1 and two patients harboured mutations in CLCN7.
They said Xeroderma pigmentosum is an autosomal
recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet light is deficient, they added.
This paper describes the isolation and genetic studies of the spontaneously occurring larval colour mutant, green thorax (gt) and its linkage with another autosomal
mutant, ruby-eye (ru) in An.
Trait Feature Mode of inheritance About 79% of Americans Producing odorous excrete sulfur compounds Autosomal
urine after eating in their urine Dominant asparagus after eating asparagus.
In most instances, VWD is autosomal
dominant, and VIII and IX deficiency are sex-linked recessives that appear in the "hemizygous" state.
Both the disorders are inherited in an autosomal
recessive mode, but with Apo C II deficiency at a lower frequency than LPL deficiency [4,5].