autosomal - definição. O que é autosomal. Significado, conceito
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O que (quem) é autosomal - definição

ANY CHROMOSOME OTHER THAN A SEX CHROMOSOME
Autosomal; Autosomal chromosome; Autosomes; Autosomal DNA; Autosomal set; AtDNA; AuDNA; Autosomal chromosomes; Autosomal inheritance
  • An illustration of the inheritance pattern and phenotypic effects of an autosomal recessive gene.
  • center

autosome         
['?:t????m]
¦ noun Biology any chromosome that is not a sex chromosome.
Derivatives
autosomal adjective
Autosome         
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures.
Autosomal dominant polycystic kidney disease         
HUMAN DISEASE
ADPKD; Polycystic kidney disease, adult type; Autosomal dominant polycystic kidney; Adpkd
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common, life-threatening inherited human disorders and the most common hereditary kidney disease. It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes.

Wikipédia

Autosome

An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. 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 labelled 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 Salome combinations, are known to occur and usually cause developmental abnormalities.

Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y chromosome encodes the transcription factor TDF and is vital for male sex determination during development. TDF functions by activating the SOX9 gene on chromosome 17, so mutations of the SOX9 gene can cause humans with an ordinary Y chromosome to develop as females.

All human autosomes have been identified and mapped by extracting the chromosomes from a cell arrested in metaphase or prometaphase and then staining them with a type of dye (most commonly, Giemsa). These chromosomes are typically viewed as karyograms for easy comparison. Clinical geneticists can compare the karyogram of an individual to a reference karyogram to discover the cytogenetic basis of certain phenotypes. For example, the karyogram of someone with Patau Syndrome would show that they possess three copies of chromosome 13. Karyograms and staining techniques can only detect large-scale disruptions to chromosomes—chromosomal aberrations smaller than a few million base pairs generally cannot be seen on a karyogram.

Exemplos do corpo de texto para autosomal
1. Nawal Robiaa, who diagnosed it as a case of PFIC, a genetically determined autosomal recessive disorder.
2. Article continues He and his team have identified about 140 different autosomal recessive disorders among local children and they estimate that a typical district would see between 20 and 30.
3. This make the condition an autosomal recessive. – Gerry, Crediton, UK Having watched the T.V programme on Bononbo‘s yesterday evening, it is not difficult to imagine that this sort of thing COULD happen.