Showing papers by "Arno G. Motulsky published in 1989"

Molecular patterns of X chromosome-linked color vision genes among 134 men of European ancestry

Abstract: We used Southern blot hybridization to study X chromosome-linked color vision genes encoding the apoproteins of red and green visual pigments in 134 unselected Caucasian men. One hundred and thirteen individuals (84.3%) had a normal arrangement of their color vision pigment genes. All had one red pigment gene; the number of green pigment genes ranged from one to five with a mode of two. The frequency of molecular genotypes indicative of normal color vision (84.3%) was significantly lower than had been observed in previous studies of color vision phenotypes. Color vision defects can be due to deletions of red or green pigment genes or due to formation of hybrid genes comprising portions of both red and green pigment genes [Nathans, J., Piantanida, T.P., Eddy, R.L., Shows, T.B., Jr., & Hogness, D.S. (1986) Science 232, 203-210]. Characteristic anomalous patterns were seen in 15 (11.2%) individuals: 7 (5.2%) had patterns characteristic of deuteranomaly (mild defect in green color perception), 2 (1.5%) had patterns characteristic of deuteranopia (severe defect in green color perception), and 6 (4.5%) had protan patterns (the red perception defects protanomaly and protanopia cannot be differentiated by current molecular methods). Previously undescribed hybrid gene patterns consisting of both green and red pigment gene fragments in addition to normal red and green genes were observed in another 6 individuals (4.5%). Only 2 of these patterns were considered as deuteranomalous. Thus, DNA testing detected anomalous color vision pigment genes at a higher frequency than expected from phenotypic color vision tests. Some color vision gene arrays associated with hybrid genes are likely to mediate normal color vision.

Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes

Abstract: In 1966 Victor McKusick published the first edition of this catalog. The book attempted to document in a single reference volume all known human genes, traits, and diseases that segregated by monogenic or Mendelian inheritance. Conditions that incontestably followed a given Mendelian mode of inheritance were starred ( * ), but many conditions whose mode of transmission was less certain were also listed. Each entry was given a unique identification number, and a short description of each entity was followed by a list of key references. The eighth edition of this reference work has now appeared. From a total of 1487 entries in 1966, the number has grown to 4344 in 1988. There are 2208 definite Mendelian entities (1443 autosomal dominant, 626 autosomal recessive, and 139 X-linked) and 2136 entries where the mode of inheritance is less certain. Many new data are provided regarding linkage and chromosomal localization. There are thought to be

Societal problems in human and medical genetics.

Abstract: The applications of human and medical genetics raise many societal and ethical problems. This paper deals with a variety of such issues posed by current and future developments in genetic counseling, genetic screening, prenatal and predictive diagnosis, and gene therapy. The promise and problems of behavioral genetics are discussed. Problems of privacy, decision making, societal pressures, stigmatization, and informed consent to genetic study are raised. Use of genetic data by insurance companies or other public groups is discussed. The rapid unfolding of genetic information affecting human health and disease is producing difficult dilemmas. New problems are likely to surface, but human ingenuity and rationality is likely to find just and compassionate solutions in most settings.