Genetic and Metabolic Disease in Pediatrics by June K. Lloyd and Charles R. Scriver (Eds.)

By June K. Lloyd and Charles R. Scriver (Eds.)

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Extra resources for Genetic and Metabolic Disease in Pediatrics

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However, when genes are linked, this law does not hold. e. linked genes are transmitted to the same gamete more than 50% of the time. The closer genes are to each other, the more frequently they will be transmitted together. This is related to crossing-over that occurs in meiosis and results in the reshuffling of genes between homologous chromosomes. Thus, genes that are far apart on the larger chromosomes may segregate randomly in relation to each other. All genes that are located on the same chromosome are said to be syntenic (Renwick, 1971); all genes that are linked are syntenic, but the converse may not be true.

Haemophilia A or factor VIII:C deficiency cannot be usefully lumped together with haemophilia B or factor IX deficiency; each requires different specific treatments and different tests for genetic prediction. It need not follow from the above that all mutations at the same gene locus should be regarded as variations of the same disease. There is great practical value in separating sickle cell anaemia from ß-thalassaemia. It might be argued that mutations that produce a deficiency of the normal protein as opposed to a structurally abnormal protein can always be lumped together.

How much of a problem depends on whether gene deletions predominate as in α-thalassaemia, or whether one will be largely dealing with point mutations as in ß-thalassaemia. To date there is limited information outside the haemoglobinopathies. , 1983) but such cases account for certainly less than 5%. Screening of 40 affected boys without factor IX antibodies yielded no examples of deletions (Giannelli, personal communication). Judging by the number of haemophilia A patients who have some residual factor VIII activity, the same story is likely to be true in haemophilia A.

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