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Recommended Conferences for Autosomal Recessive

Autosomal Recessive

Dominance in genetics is a relationship between alleles of one gene, in which one allele is expressed over a second allele at the same locus. The first allele is dominant and the second allele is recessive. For genes on an autosome (any chromosome other than a sex chromosome), the alleles and their associated traits are autosomal dominant or autosomal recessive. Dominance is a key concept in Mendelian inheritance and classical genetics. Often the dominant allele codes for a functional protein whereas the recessive allele does not.

A classic example of dominance is the inheritance of seed shape (pea shape) in peas. Peas may be round (associated with allele R) or wrinkled (associated with allele r). In this case, three combinations of alleles (genotypes) are possible: RR, Rr, and rr. The RR individuals have round peas and the rr individuals have wrinkled peas. In Rr individuals the R allele masks the presence of the r allele, so these individuals also have round peas. Thus, allele R is dominant to allele r, and allele r is recessive to allele R (this use of upper case for dominant alleles and lower case for recessive alleles is a widely followed convention).

More generally, where a gene exists in two allelic versions (designated A and a), three combinations of alleles (genotypes) are possible: AA, Aa, and aa. If AA and aa individuals (homozygotes) show different forms of some trait (phenotypes), and Aa individuals (heterozygotes) show the same phenotype as AA individuals, then allele A is said to dominate or be dominant to or show dominance to allele a, and a is said to be recessive to A.

Dominance is not inherent to an allele. It is a relationship between alleles; one allele can be dominant over a second allele, recessive to a third allele, and co-dominant to a fourth. Dominance differs from epistasis, a relationship in which an allele of one gene affects the expression of another allele at a different gene. An autosome is a chromosome that is not an allosome (i.e., not a sex chromosome). Autosomes appear in pairs whose members have the same form but differ from other pairs in a diploid cell, whereas members of an allosome pair may differ from one another and thereby determine sex. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1-22 in humans) roughly in order of their sizes in base pairs, while allosomes are labeled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. (Unusual combinations of XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other allosome combinations, are known to occur and usually cause developmental abnormalities. By definition, the terms dominant and recessive refer to the genotypic interaction of alleles in producing the phenotype of the heterozygote.

The key concept is genetic: Which of the two alleles present in the heterozygote is expressed, such that the organism is phenotypically identical to one of the two homozygotes. It is sometimes convenient to talk about the trait corresponding to the dominant allele as the dominant trait, and the trait corresponding to the hidden allele as the recessive trait. However, this can easily lead to confusion in understanding the concept as phenotypic. For example, to say that "green peas" dominate "yellow peas" confuses inherited genotypes and expressed phenotypes, and will subsequently confuse discussion of the molecular basis of the phenotypic difference. Dominance is not inherent. One allele can be dominant to a second allele, recessive to a third allele, and co-dominant to a fourth. Dominance is unrelated to the nature of the phenotype itself, that is, whether it is regarded as "normal" or "abnormal," "standard" or "nonstandard," "healthy" or "diseased," "stronger" or "weaker," or more or less extreme. A dominant allele may account for any of these trait types. Other distinctions are made between the gene locus (e.g. "A gene influencing seed shape"), the alleles at that locus (e.g. the "round" or "wrinkled alleles"), and the phenotype the alleles produce (e.g. "round" or "wrinkled").

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Autosomal Recessive Related Conferences :

1. 1st-International Caparica Conference in Translational Nephrology & 18th Portuguese Symposium on Renal Diseases – I-IC2TN2014
2. 3rd International Conference and Exhibition on Neurology & Therapeutics
3. 2nd International Conference on Genomics & Pharmacogenomics
4. International Conference on Genetic Engineering & Genetically Modified Organisms
5. 4th International Conference on Clinical & Experimental Ophthalmology
6. Autosomal Dominant Polycystic Kidney Disease (ADPKD)
7. Autosomal Dominant Inheritance in PXE: Debunking the Myth 2004: PXE Research Conference
8. The Spectrum of Caregiving and Palliative Care in Rare Diseases
9. 14th International NCL Congress: Supporting US Based Scientists
10. RDCRN 3rd Conference on Clinical Research for Rare Diseases
11. Gene Transfer and Rare Diseases Workshop

Autosomal Recessive Related Associations :

1. The Clinical Association of Autosomal Dominant Polycystic Kidney Disease and renal cell Carcinoma, USA
2. PKD Foundation, USA
3. Genetics Society, USA
4. Genetics Society of America, USA
5. The American Society of Human Genetics, USA
6. International Federation of Human Genetics Societies, USA
7. British Society for Genetic Medicine, UK
8. Human Genetics Society of Australasia, Australia
9. European Society of Human Genetics, UK
10. German Society of Human Genetics, Germany


Family Tree DNA Genographic Project.
Chromo2 test
Genetic Testing Laboratories Limited
Athena Diagnostics
DNA Testing Center, Canada
Paleo-DNA Laboratory

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This page was last updated on July 22, 2024

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