Inheritance mode

Multiple deletions of mtDNA have been recorded in several families, where members show an autosomal dominant mode of inheritance of a syndrome involv-... 

Disease Mode of Inheritance Gene Location Gene Product... 

In general, the porphyrias described are inherited in an autosomal dominant manner, with the exception of congenital erythropoietic porphyria, which is inherited in a recessive mode. The precise abnormalities in the genes directing synthesis of the enzymes involved in heme biosynthesis have been determined in some instances. Thus, the use of appropriate gene probes has made possible the prenatal diagnosis of some of the porphyrias. 

Red blood cell enzyme anomalies Mode of inheritance... 

Markedly increased adenosine deaminase (ADA) activity in red blood cells develops into hereditary hemolytic anemia. The mode of inheritance is autosomal dominant. Only four families have been reported so far, including our two (K3,... 

It is not as if the Mendelians were unaware of this move that they made. Their opponents, the biometricians (particularly Pearson) objected vehemently but were ignored - see Provine (1971) for a history. In the German context Sapp (1987) provides some relevant historical detail, although his main focus is on non-genetic inheritance rather than alternative modes of non-Mendelian genetic inheritance. 

Alda M, Grof P, Grof E, Zvolsky P, Walsh M. Mode of inheritance in families of patients with lithium-responsive affective disorders. Acta Psychiatr Scand 1994 90[4] 304—310. 

Both mode of inheritance (dominant, recessive) and allele frequency can have dramatic effects on required sample sizes (Table 10.2). Even for the best case scenario - a common SNP acting in a dominant fashion - a relatively large sample size of more than 300 cases (a total sample size of >900 subjects) is required at an a of 0.05 (Table 10.2). 

Primary lysosomal hydrolase defects. Two-thirds of the lysosomal storage diseases involve defects in genes that code for acid hydrolases. Table 41-2 lists 29 defects that have been defined so far. They have an autosomal recessive mode of inheritance, except for Hunter s syndrome and Fabry s disease, where the mode is X-linked recessive. The defective genes have been identified and mutations have been defined for nearly all. The nervous system is involved in most. Many of the disorders show a wide range of clinical severity, which may range from death in early childhood to a moderate disability in adulthood. 

More than a dozen other determined forms of dystonia have been described. They differ in their mode of inheritance, and the genes involved. A detailed description of these disorders is beyond the scope of this chapter. 

The occurrence of more than one affected child in many of the families with galactosemia made it appear highly probable that this was a genetically determined disease. The mode of inheritance was worked out by the conventional methods of human genetics and, later, confirmed by biochemical studies of the families. The direct assay of enzymatic activity in heretozygotes for galactosemia must rank as one of the major contributions of biochemistry to the study of human genetics. 

At Harvard, Theodore William Richards, like Noyes, inherited a course in theoretical chemistry. He renamed it physical chemistry. However, he cautioned students that the molecular kinetic hypotheses might prove ephemeral, and, to the young Lewis s consternation, Richards showed contempt for the notion of chemical bonds. "Twaddle about bonds A very crude method of representing certain known facts about chemical reactions. A mode of representation] not an explanation. "68 It was not so much that Richards sided with energeticists against kinetic and mechanical representations, but he did have a distrust of mathematical formulations too far removed from the laboratory. When J. Robert Oppenheimer enrolled in Richards s course in physical chemistry in 1925, he pronounced it "a great disappointment,. .. a very meager hick course.. . . Richards was afraid of even rudimentary mathematics."69 Thus, physical chemistry by no means necessarily meant mathematical chemistry. 

There must be ample information on the molecular genetic nature of the disorder (mode of inheritance, gene frequency, polymorphic nature of the locus, genetic heterogeneity of the disorder). 

Which of the following pedigrees best illustrates the mode of inheritance of this patient s genetic disease ... 

Major modes of inheritance of single-gene mutations are ... 

Figure 11-1-10. A Baste Decision Tree for Determining the Mode of inheritance In a Pedigree...

Because a sperm cell contributes no mitochondria to the e cell during fertilization, mitochondrial DNA is inherited exclusively through females. Ped rees for mitochondrial diseases thus display a distinct mode of inheritance diseases are transmitted only from affected females to their offspring (Pig II-l-l 1). 

A lai e, three-generation family in whom multiple members are affected with a rare, undiagnosed disease is being studied. Affected males never produce affected children, but affected females do produce affected children of both sexes when they mate with unaffected males. What is the most likely mode of inheritance ... 

The other modes of inheritance can influence the relative proportions of affected individuals who belong to one gender or the other (e.g., more affected males under X-linked recessive inheritance, more affected females under X-linked dominant inheritance), but they do not involve any differences in expression depending on the transmitting parent. 

Beranova, M., Oliveira, L. M. B., Bedecarrats, G. Y., et al. (2001) Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism. J. Clin. Endocrinol. Metab. 86,1580-1588. 

In view of the toxicity of ammonia, complete absence of any one of the enzymes of the cycle is fatal. Nonetheless, disorders of the cycle do occur, which are caused by a low activity of one of the enzymes or carbamoyl phosphate synthetase. In addition, defects in N-acetylglutamate synthase have been reported, but they are very rare. With the exception of ornithine transcarbamoylase, the deficiencies have an autosomal recessive mode of inheritance. The transcarbamoylase deficiency is inherited as an X-linked dominant trait, usually lethal in male patients. A deficiency of carbamoyl phosphate synthetase, ornithine transcarbamoylase or argininosuccinate synthetase results in accumulation and excretion of citrulline. A deficiency of argininosuccinate lyase results in the accumulation and excretion of argininosuccinate and arginine (Table 10.5). The abbreviations CPSD, OTCD, ASD, ALD and AD stand, respectively, for the deficiencies of these enzymes, where D stands for deficiency. 

---