Chronic granulomatous disease (CGD) is defined as an inherited phagocyte disorder causing defective superoxide generation and intracellular killing. Reduced or missing burst activity of nicotinamide dinucleotide phosphate (NADPH) oxide complex is observed in this inborn defect that usually manifests itself during the first two years of life. It can be inherited either by X-linked inheritance or autosomal recessive inheritance. Most patients with CGD develop failure to thrive, severe bacterial adenitis, abscesses, osteomyelitis or hyperinflammaory manifestations. (Copied from article).
The Fabry disease-causing mutation, the GLA IVS4+919G>A (designated GLA IVS4), is very prevalent in patients with hypertrophic cardiomyopathy in Taiwan. This X-linked mutation has also been found in patients in Kyushu, Japan and Southeast Asia. To investigate the age and the possible ancestral origin of this mutation, a total of 33 male patients with the GLA IVS4+919G>A mutation, born in Taiwan, Japan, Singapore, Malaysia, Vietnam, and the Fujian and Guangdong provinces of China, were studied. Peripheral bloods were collected, and the Ilumina Infinium CoreExome-24 microarray was used for dense genotyping. A mutation-carrying haplotype was discovered which was shared by all 33 patients. This haplotype does not exist in 15 healthy persons without the mutation. Rather, a wide diversity of haplotypes was found in the vicinity of the mutation site, supporting the existence of a single founder of the GLA IVS4 mutation. The age of the founder mutation was estimated by the lengths of the mutation-carrying haplotypes based on the linkage-disequilibrium decay theory. The first, second, and third quartile of the age estimates are 800.7, 922.6, and 1068.4 years, respectively. We concluded that the GLA IVS4+919G>A mutation originated from a single mutational event that occurred in a Chinese chromosome more than 800 years ago.
Since the early 1950’s, Singapore is internationally known as the guppy-breeding centre. At least 40 different colour varieties of guppies are cultured in Singapore, with each farm specialising in 10 to 15 varieties. These fancy varieties have been developed by skilful farmers through intensive and continual selective breeding. Genes controlling background body pigmentation such as albino (a), blond (b), gold (g) and blue (r) are autosomally inherited and recessive to their wild-type alleles which produce drab olive-brown background coloration. Colour patterns which are superimposed onto wild-type background coloration are due to genes located on the sex chromosomes. These
sex-linked colour genes are dominant and sex-limited to males as their expression requires male hormones. Y-linked colour pattern genes carried by males are inherited only along the paternal line while X-linked genes are present in both sexes. Among the guppy varieties produced locally, only two Y-linked genes, Ssb and Sst, that control snakeskin tail and body patterns, respectively, have been found in varieties with snakeskin-like reticulations. Single colour genes that are both X- and Y-linked produce red (Rdt), blue (Blt), green (Grt), black (Bt) and variegated (Var) patterns
on the caudal fin. The black caudal-peduncle of the Tuxedo variety is the result of Bcp, a gene that is both X- and Ylinked. Different combinations of colour pattern genes and background pigmentation genes as well as interactions among them give rise to various colour phenotypes. For
instance, the inclusion of Bcp in Snakeskin varieties causes black reticulations on the tail fin to be replaced by large, coarse black spots. Neon coloration is produced by interactions between the Ln (light turquoise) gene with Blt, Rdt and Bcp.