Congenital disorders: Difference between revisions

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!Pattern of inheritance !! Description !! Example

|-

|X-linked dominant || ~~•By~~ mutations in genes on the X chromosome,

|X-linked dominant || *By mutations in genes on the X chromosome,

• In females, a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder.

* In females, a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder.

• In males, a mutation in the only copy of the gene in each cell causes the disorder.

* In males, a mutation in the only copy of the gene in each cell causes the disorder.

• In most cases, males experience more severe symptoms of the disorder than females. || fragile X syndrome

* In most cases, males experience more severe symptoms of the disorder than females. || fragile X syndrome

|-

|X-linked recessive || • Caused by mutations in genes on the X chromosome.

|X-linked recessive ||* Caused by mutations in genes on the X chromosome.

• A mutation would have to occur in both copies of the gene to cause the disorder in females.

* A mutation would have to occur in both copies of the gene to cause the disorder in females.

• In males, one altered copy of the gene in each cell is sufficient to cause the condition.

* In males, one altered copy of the gene in each cell is sufficient to cause the condition.

• Males are affected by X-linked recessive disorders much more frequently than females. ||hemophilia, Fabry disease

* Males are affected by X-linked recessive disorders much more frequently than females.

|| hemophilia, Fabry disease

|-

| Y-linked || • Caused by mutations in genes on the Y chromosome.

| Y-linked || * Caused by mutations in genes on the Y chromosome.

• So, the mutation can only be passed from father to son. || Y chromosome infertility, some cases of Swyer syndrome

* So, the mutation can only be passed from father to son.

|| Y chromosome infertility, some cases of Swyer syndrome

|-

|Autosomal dominant || • One mutated copy of the gene in each cell is sufficient for a person to be affected.

|Autosomal dominant || * One mutated copy of the gene in each cell is sufficient for a person to be affected.

• An affected person can inherit the condition from an affected parent.

* An affected person can inherit the condition from an affected parent.

• the condition may result from a new mutation in the gene (e, without any family history)

* the condition may result from a new mutation in the gene (e, without any family history)

|| Huntington disease, Marfan syndrome

|-

|Autosomal recessive || • Both copies of the gene in each cell should have mutations.

|Autosomal recessive || * Both copies of the gene in each cell should have mutations.

• Typically not seen in every generation of an affected family.

* Typically not seen in every generation of an affected family.

|| cystic fibrosis, sickle cell disease

|-

|Codominant || • Two different versions (alleles) of a gene are expressed.

|Codominant || * Two different versions (alleles) of a gene are expressed.

• Both alleles influence the genetic trait or determine the characteristics of the genetic condition.|| ABO blood group, alpha-1 antitrypsin deficiency

* Both alleles influence the genetic trait or determine the characteristics of the genetic condition.

|| ABO blood group, alpha-1 antitrypsin deficiency

|-

| Mitochondrial || • Also known as maternal inheritance

| Mitochondrial || * Also known as maternal inheritance

• Applies to the genes in mitochondrial DNA

* Applies to the genes in mitochondrial DNA

• Only females can pass on mitochondrial mutations to their children as only egg cells contribute mitochondria to the developing embryo. Leber hereditary optic neuropathy (LHON)

* Only females can pass on mitochondrial mutations to their children as only egg cells contribute mitochondria to the developing embryo.

||Leber hereditary optic neuropathy (LHON)

|}

@@ Line 231: / Line 231: @@
 !Pattern of inheritance !!	Description !!	Example
 |-
-|X-linked dominant	|| •By mutations in genes on the  X chromosome,
+|X-linked dominant	|| *By mutations in genes on the  X chromosome,
-• In females, a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder.
+* In females, a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder.
-• In males, a mutation in the only copy of the gene in each cell causes the disorder.
+* In males, a mutation in the only copy of the gene in each cell causes the disorder.
-• In most cases, males experience more severe symptoms of the disorder than females. || fragile X syndrome
+* In most cases, males experience more severe symptoms of the disorder than females. || fragile X syndrome
 |-
-|X-linked recessive ||	• Caused by mutations in genes on the X chromosome.
+|X-linked recessive ||* Caused by mutations in genes on the X chromosome.
-• A mutation would have to occur in both copies of the gene to cause the disorder in females.
+* A mutation would have to occur in both copies of the gene to cause the disorder in females.
-• In males, one altered copy of the gene in each cell is sufficient to cause the condition.
+* In males, one altered copy of the gene in each cell is sufficient to cause the condition.
-• Males are affected by X-linked recessive disorders much more frequently than females. ||hemophilia, Fabry disease
+* Males are affected by X-linked recessive disorders much more frequently than females.
+|| hemophilia, Fabry disease
 |-
-| Y-linked ||	• Caused by mutations in genes on the Y chromosome.
+| Y-linked ||	* Caused by mutations in genes on the Y chromosome.
-• So, the mutation can only be passed from father to son.	|| Y chromosome infertility, some cases of Swyer syndrome
+* So, the mutation can only be passed from father to son.
+|| Y chromosome infertility, some cases of Swyer syndrome
 |-
-|Autosomal dominant	|| • One mutated copy of the gene in each cell is sufficient for a person to be affected.
+|Autosomal dominant	|| * One mutated copy of the gene in each cell is sufficient for a person to be affected.
-• An affected person can inherit the condition from an affected parent.
+* An affected person can inherit the condition from an affected parent.
-• the condition may result from a new mutation in the gene (e, without any family history)
+* the condition may result from a new mutation in the gene (e, without any family history)
 || Huntington disease, Marfan syndrome
 |-
-|Autosomal recessive ||	• Both copies of the gene in each cell should have mutations.
+|Autosomal recessive ||	* Both copies of the gene in each cell should have mutations.
-• Typically not seen in every generation of an affected family.
+* Typically not seen in every generation of an affected family.
 || cystic fibrosis, sickle cell disease
 |-
-|Codominant ||	• Two different versions (alleles) of a gene are expressed.
+|Codominant ||	* Two different versions (alleles) of a gene are expressed.
-• Both alleles influence the genetic trait or determine the characteristics of the genetic condition.|| ABO blood group, alpha-1 antitrypsin deficiency
+* Both alleles influence the genetic trait or determine the characteristics of the genetic condition.
+|| ABO blood group, alpha-1 antitrypsin deficiency
 |-
-| Mitochondrial || • Also known as maternal inheritance
+| Mitochondrial || * Also known as maternal inheritance
-• Applies to the genes in mitochondrial DNA
+* Applies to the genes in mitochondrial DNA
-• Only females can pass on mitochondrial mutations to their children as only egg cells contribute mitochondria to the developing embryo.	Leber hereditary optic neuropathy (LHON)
+* Only females can pass on mitochondrial mutations to their children as only egg cells contribute mitochondria to the developing embryo.
+||Leber hereditary optic neuropathy (LHON)
 |}