Outline the different patterns of inheritance associated with X linked genes. Where possible give a molecular explanation for the pattern. 6 th October 2008. X Linked Inheritance. Refers to the pattern of inheritance of a condition caused by a mutations in a gene located on the X chromosome.
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6th October 2008
Androgen Insensitivity Syndrome
Colour Vision Deficiency
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects (CHILD)
Cornelia De Lange Syndrome
Duchenne And Becker Muscular Dystrophy
Emery-Dreifuss Muscular Dystrophy
Fragile X Syndrome
Glucose-6-Phosphate Dehydrogenase Deficiency
Paroxysmal Nocturnal Hemoglobinuria
Spastic Paraplegia Type 2
Spinal And Bulbar Muscular Atrophy
X-Linked Adrenal Hypoplasia Congenita
X-Linked Juvenile Retinoschisis
X-Linked Severe Combined Immunodeficiency
X-Linked Sideroblastic Anemia
X-Linked Spondyloepiphyseal Dysplasia TardaConditions Related To Genes On The X Chromosome
Hypohidrotic Ectodermal Dysplasia
Lenz Microphthalmia Syndrome
Mcleod Neuroacanthocytosis Syndrome
Opitz G/BBB Syndrome
Ornithine Transcarbamylase Deficiency
Otopalatodigital Syndrome Type 1
Otopalatodigital Syndrome Type 2
Reasons that a female may be affected with an X-linked recessive disorder
Only females (and boys with Klinefelter Syndrome) are affected The pedigree may appear to have several spontaneous abortions in the offspring of affected females.
As a result the sex ratio of their live offspring is often skewed.
Examples include Incontinentia Pigmenti and Aicardi SyndromeX linked dominant inheritance with male lethality
In contrast to most other known X-linked recessive or dominant disorders, the milder phenotype of the males is unexplained. Possible explanations: