X-linked dominant genetic disorder probability in females
X linked Recessive Inheritance
Generally, it manifests only in males. A male with an affected allele on his single X chromosome is hemizygous and can not transmit the disorder to their male offsprings, but all his daughters would be obligate carriers. Healthy heterozygous carrier females pass the disorder to affected sons. So from affected males, it can be transmitted to male grandchildren through carrier daughter (’diagonal’ or ’Knight’s move’ transmission).
RISK CALCULATION: The X chromosome from a male is transmitted to daughters, and the Y chromosome is transferred to sons. If an affected male has kids with a healthy female, none of his male offsprings will be affected, but all of his female offspring will be carriers. If a carrier female has kids with a healthy male, each male offspring has a 50% chance of being affected, and female offspring have a 50% chance of being a carrier.
VARIABLE EXPRESSION: Heterozygous female are those who are having mutant allele on one X chromosome, and normal allele on another X. Heterozygous female may have a variable expression of X linked recessive disorder due to the random process of X inactivation involving inactivation of the X chromosome with a mutant allele in some cells while inactivation of the X chromosome with a normal allele in other cells (mosaic pattern).
X-LINKED DISORDERS IN FEMALES: Sometimes, females might be affected by X linked recessive disorders. This fact is explainable by one of the following possibilities.
(a) Heterozygosity: X inactivation is a random phenomenon that can involve a mutant allele containing X and a normal allele X in equal proportion in the heterozygous female. It is a possibility that the active X chromosome in the majority of the cells of a heterozygous female is the one having a mutant allele (skewed X inactivation), leading to disorder expression; this has been the case in Duchenne muscular dystrophy and hemophilia A.
(b) Homozygosity: When both X chromosomes of females have a mutant allele, as reported in hemophilia A and ichthyosis.
(c) Translocations: If a female is having a translocation involving an autosome and one of the X chromosomes and the translocation disrupts a gene on an X chromosome, in that case, a female might be affected. This pattern has been observed in Duchenne muscular dystrophy.[10][11][10]
(d) A female having only a single X chromosome (Turner syndrome), which is bearing a mutant allele. Hemophilia has been reported in the girl infant with the turner syndrome.[12]
X linked Dominant Inheritance
Male and female both are affected, but females are affected in excess and less severely. Affected males can transmit the mutant allele to female offspring but not to male offspring. Affected females can transmit the mutant allele to 50% of his male offspring and 50% of his female offspring. examples are Vitamin D resistant (hypophosphatemic) rickets, Charcot-Marie-tooth disease.
Some X-like dominant disorders, such as incontinentia pigmenti (Bloch-Sulzberger syndrome), showed a mosaic pattern of involvement for heterozygous females.
X-LINKED DOMINANT LETHALS: These disorders are incompatible with early embryonic survival. They are seen only in females and not in males because, in the severe form, they will cause the death of a male embryo, but as females are less severely affected female embryo will survive.
Keywords:
If a disease with dominant X-linked inheritance affects 1/100 of males in a population, what is the frequency of that gene in the population? What portion of females in the population will be affected by the dominant X-linked disease?
#XlinkedGeneticDisorder #XChromosome #XchromosomeLinked #geneticDisease #probability #statistics #Genetics #biology #XlinkedTraits #genotype #phenotype #KhanAcademy #NikolaysGeneticsLessons #geneticDisorder #DNA #RNA #geneticsDisorders #homozygous #hemizygous #chromosomes #XChromosomeInheritance #dominantTrait #geneticDesease #XlinkedRecessive #AutosomalRecessive #GeneticsExamQuestionsSolutions #SexlinkedDominant #skewedXinactivation #Xlinked
1 view
120
35
6 months ago 00:12:28 1
AMD X3D V-Cache Dominating: Counter-Strike 2 CPU Benchmarks
6 months ago 00:03:30 1
∴flower『ドクトリーヌ』ー Doctorine / 煮ル果実【Official】
7 months ago 00:02:09 2
hard rock x grunge x deftones x alice in chains type beat | fallen guard
7 months ago 03:09:48 1
Chill Vibes 🌙 Soft House Melodies to Relax
7 months ago 01:30:57 1
R3WIRE - HOUSE & TECH LIVE MIX - 04/10/2023, LONDON
7 months ago 00:01:31 1
TVアニメ「陰の実力者になりたくてᦀ
7 months ago 00:03:42 1
OxT「grayscale dominator」Music Video Full Size
7 months ago 00:23:08 1
[$23,000] 😱 Gaming, Render and Streaming PC in One Case
7 months ago 00:01:30 16
TVアニメ「陰の実力者になりたくて!」《シャドウ》ダイジェストムービー 【MAD/AMV】
7 months ago 01:22:16 1
Phonk music imagine yourself in fake scenarios ※ Aggressive Drift Phonk ※ Phonk Mix 2023
7 months ago 00:03:03 1
[FREE] Emo Rock x Alternative Rock Type Beat “Sad Song“
7 months ago 00:03:18 1
*free* nu metal x 2000s linkin park type beat “figure out“
7 months ago 00:01:22 8
Worship Marley? Am I Into Findom Now? New Channel Update
7 months ago 01:19:23 1
Rachmaninoff: Adagios
7 months ago 00:03:24 1
Mozart’s Requiem - Lacrimosa - Metal version By Ranthiel ft. @MarkKlett
7 months ago 00:03:43 1
[FREE] Linkin Park x Paramore x Evanescence Nu Metal Rap Type Beat
7 months ago 00:15:03 1
Sylvanas Final Words: Calia Purges Scarlet Crusade - All Undead Heritage Cutscenes | WoW Lore
8 months ago 00:06:49 1
GoPro HERO7 X Johnny FPV - DRIFT
8 months ago 00:09:50 1
How to Solve Pedigree Questions
8 months ago 00:08:49 1
10 Blender Addons That Save Me 100+ Hours
8 months ago 00:10:49 1
How to See and Understand Family Tree Patterns
8 months ago 00:10:35 1
Pedigree probability calculations
8 months ago 00:12:24 1
Indie Gaming This Week: 21 - 27 August 2023
8 months ago 00:46:40 1
samurai champloo x cowboy bebop chillhop vibes mix (feat. nujabes)