Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease
and incidentally detect parental blood relationships.
Apparently, 1 in every 2500 children born alive suffers from common autosomal recessive disease
Cystic Fibrosis (CF) is an autosomal recessive disease
characterized by the secretion of thick, sticky mucus which clogs the lungs and leads to life-threatening lung infections; and obstructs pancreatic enzyme secretions that are essential for the body to break down and absorb nutrients.
A potential autosomal recessive disease
may be caused by an excessively long ROH.
It is an hereditary autosomal recessive disease
with a prevalence estimated in various studies to be between 1/57 000 and 1/256 000, and a male: female ratio of 1:3.
The results inferred the inheritance of the nonmutated paternal allele; thus the autosomal recessive disease
in question could be excluded.
Approximately 70,000 individuals in Europe and North America suffer from CF, making it the most common life-threatening autosomal recessive disease
This mild decrease was also obvious in the parents of AVED patients, who are heterozygous for this autosomal recessive disease
, in comparison with age-matched controls (Fig.
About Cystic Fibrosis: Cystic Fibrosis is the most common life-shortening autosomal recessive disease
among Caucasians, and lung disease is the leading cause of hospitalizations and death in adult CF patients.
MLD is an autosomal recessive disease
caused by a deficiency of the lysosomal enzyme arylsulfatase A (ASA) which results in an increased concentration of sulphatide in cells of the brains and in non-neural tissue, such as the kidneys and gallbladder.
Primary Hyperoxaluria is a rare, autosomal recessive disease
, caused by deficiency of an enzyme in the liver, affecting approximately 3,000 to 4,000 children and adolescents.
SMA is an autosomal recessive disease
which causes severe weakness in the muscles that control breathing, swallowing, head and neck control, walking and crawling.
Cystic fibrosis is an autosomal recessive disease
caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Cystic Fibrosis is the most common autosomal recessive disease
in the Caucasian population with a prevalence estimate of 1 in 2,500 to 3,300 live births.
2) The nature of gene action in the pathogenesis of Werner syndrome, a rare autosomal recessive disease