Twinning rate in spontaneous abortions.

An unselected series of spontaneous abortions and their mothers were karyotyped with Q-bands to obtain a frequency of twin conceptions lost during the first trimester. Among 661 spontaneous abortions, 15 twin pairs were identified including two sets of conjoined twins. Analysis of Q-band variants permitted the exclusion of cases with two cell lines that could be attributed to maternal contamination or mosaicism. The twinning rate among spontaneous abortions was 1/44 compared with 1/103 live births and stillbirths in the Ontario population. If Weinberg's differential method is applied to these data, the frequency would be as high as 1/30 under the assumption that the incidence of monozygotic twins among abortions is the same as that for live births.     

MEMBRANE-COATING GRANULES OF KERATINIZING EPITHELIA

The purpose of this study has been to obtain information on the development of the envelop of horny cells that resists the action of keratinolytic agents. Toward this end the epidermis, oral mucosa, and tongue epithelium of various vertebrates, as well as the isolated envelopes of horny cells, were examined by electron microscopy. It was found that small cytoplasmic granules (1,000 to 5,000 A) that develop within differentiating epithelial cells move toward the cell periphery, and after fusion with the plasma membrane, empty their contents into the intercellular spaces. The content of the granules spreads over the cell surfaces, and subsequently a thickened and coated cell envelope is formed that resists the action of keratinolytic agent. The membrane-coating granule is regarded as a specific differentiation product of the keratinizing epithelium. It contains numerous inner membranes and is assumed to engage in synthetic activities such as, perhaps, the formation of polysaccharides.     

Fragile-X syndrome: Unique genetics of the heritable unstable element

The fragile site at Xq27.3 is an unstable microsatellite repeat, p(CCG)n. In fragile-X syndrome pedigrees, this sequence exhibits variable amplification, the length of which correlates with fragile-site expression. There is a direct relationship between increased p(CCG)n copy number and propensity for instability: individuals having large amplifications exhibit somatic variation due to increased instability. The instability of the p(CCG)n repeat, when transmitted through affected pedigrees, explains the unusual segregation patterns of fragile-X phenotype, referred to as the Sherman paradox. All individuals of fragile-X genotype were found (where testing was possible) to have a parent with amplified p(CCG)n repeat, indicating that few, if any, cases of fragile-X syndrome are not familial.     

Refined genetic localization for central core disease

Central core disease (CCO) is an autosomal dominant myopathy clinically distinct from malignant hyperthermia (MHS). In a large kindred in which the gene for CCO is segregating, two-point linkage analysis gave a maximum lod score, between the central core disease locus (CCO) and the ryanodine receptor locus (RYR1), of 11.8, with no recombination. Mutation within RYR1 is responsible for MHS, and RYR1 is also a candidate locus for CCO. A combination of physical mapping using a radiation-induced human-hamster hybrid panel and of multipoint linkage analysis using the Centre d'Etude du Polymorphisme Humain families established the marker order and sex-average map distances (in centimorgans) on the background map as D19S75–(5.2)–D19S9–(3.4)–D19S191–(2.2)–RYR1–(1.7)–D19S190–(1.6)-D19S47–(2.0)–CYP2B. Recombination was observed between CCO and the markers flanking RYR1. These linkage data are consistent with the hypothesis that CCO and RYR1 are allelic. The most likely position for CCO is near RYR1, with a multipoint lod score of 11.4, in 19q13.1 between D19S191 and D19S190, within the same interval as MHS (RYR1).     

Colonization of artificial substrates by benthos in a second-order high altitude river in Kenya

An investigation on the colonization of artificial substrate baskets by benthos was carried out in the Naro Moru River, a second-order high altitude river in Kenya, from November, 1986 to October, 1987. Simuliidae dominated the colonizing benthos. The mean (±95% CL) maximum colonization time was achieved after 9.63±1.57 days. The highest mean diversity (H) occurred after 6 days of exposure whilst the highest mean H_maximum, evenness (J) and species richness (s) were achieved after 10, 8 and 10 days respectively.The benthos arrival rate (AR) declined exponentially with time. The changes in benthos departure rate (DR) with time was insignificant. Equilibrial state (AR:DR=1.0) was not achieved in the present study.     

RAPD分析─鉴定柑桔体细胞杂种的快速方法

本文利用改进的DNA提取方法,从Volkamer柠檬(Citrus volkameriana Ten. and Pasq.)和酸橙(C. aurantium L.)及其原生质体杂种植株的叶片中抽提总DNA,进行RAPD(Random Amplified Polymorphic DNA)分析。结果表明: 在随机选取的15种引物中,有10种可单独或与其它引物一道鉴定这一组合的体细胞杂种。与形态学性状观察、同工酶及ONA杂交分析等方法比较,RAPD分析是一种可在试管苗期即可直接、准确、快速鉴定柑桔体细胞杂种的方法。     

Chromosomal localization of three mouse diacylglycerol kinase (DAGK) genes: genes sharing sequence homology to the Drosophila retinal degeneration A (rdgA) gene

There is growing evidence to support some form of light-activated phosphoinositide signal transduction pathway in the mammalian retina. Although this pathway plays no obvious role in mammalian phototransduction, mutations in this pathway cause retinal degenerations in Drosophila. These include the retinal degeneration A mutant, which is caused by an alteration in an eye-specific diacylglycerol kinase (DAGK) gene. In our efforts to consider genes mutated in Drosophila as candidates for mammalian eye disease, we have initially determined the map position of three DAGK genes in the mouse.     

Four familial translocations ascertained through spontaneous abortions

Summary In a study of 514 spontaneous abortions, 194 were found to have a chromosome anomaly. Of these, 4 (2.1%) were unbalanced translocations. Three of the translocations were Robertsonian (13q14q) and one was reciprocal. Each translocation was ascertained independently and each was associated with a balanced rearrangement in a carrier parent.     

Chromosome analysis on 930 consecutive newborn children using quinacrine fluorescent banding technique

Summary Chromosome analysing using quinacrine fluorescence was performed on 930 consecutive newborn infants. The total incidence of major chromosome aberrations including numerical changes of the sex chromosomes, and structural changes of autosomes, was 0.54%. Incidences of XYY (0.4%) and XXY (0.2%) were relatively higher as compared to other studies. About 0.75% of the newborn infants were found to have a variable bright fluorescent band located on the proximal area of the short arm (p11) rather than on the proximal long arm (q11) of chromosome No. 3. Attempts were also made to record the variable fluorescent regions on 7 autosomes and the Y chromosome.