The pertinent literature on inherited corneal diseases is reviewed in terms of the chromosomal localization and identification of the responsible genes. Disorders affecting the cornea have been mapped to human chromosome 1 (central crystalline corneal dystrophy, familial subepithelial corneal amyloidosis, early onset Fuchs dystrophy, posterior polymorphous corneal dystrophy), chromosome 4 (Biet...

A radiation hybrid (RH)-derived physical map of 25 markers on the feline X chromosome (including 19 Type I coding loci and 6 Type II microsatellite markers) was compared to homologous marker order on the human and mouse X chromosome maps. Complete conservation of synteny and marker order was observed between feline and human X chromosomes, whereas the same markers identified a minimum of seven ...

Objectives: Male infertility is a large and unexplored global health problem in terms of prevalence. Chromosomal polymorphisms may be associated with recurrent spontaneous abortions. Non-protein coding frequently repetitive satellite DNA sequences are found these regions. Methods: This study aims to present genetic laboratory experience the evaluation frequency, type significance Y chromosome p...

Streptomyces coelicolor A3(2) strain 2106 carries a 1.85-Mb linear plasmid, SCP1'-cysD, in addition to a 7.2-Mb linear chromosome. Macrorestriction analysis indicated that both linear DNAs are hybrids of the wild-type chromosome and the linear plasmid SCP1 on each side. Nucleotide sequencing of the fusion junctions revealed no homology between the recombination regions. SCP1'-cysD contains an S...

Charcot-Marie-Tooth disease type 1 (CMT1) or hereditary motor and sensory neuropathy type I (HMSNI) is an autosomal dominant peripheral neuropathy. In most families the disease segregates with a 1.5 Mb duplication on chromosome 17p11.2 (CMT1A). A few patients have been found with point mutations in the PMP-22 gene. In some families linkage has been found with markers located on chromosome 1q21-...

Many cases of chromosomal mosaicism of the XO/XY type have been described. The phenotype of these patients has shown a wide diversity. In a recent review of 19 published cases in which the XO/XY sex chromosome pattern was established (Jackson, Hoffman, and Makda, 1966), 14 were apparently female and 5 male. The occurrence of XO/XYY mosaicism has been reported less often. Jacobs, Harnden, Buckto...

We investigated the effect of the Y chromosome on testis weight in (B6.Cg-A(y) × Y-consomic mouse strain) F1 male mice. We obtained the following results: (1) Mice with the Mus musculus domesticus-type Y chromosome had significantly heavier testis than those with the M. m. musculus-type Y chromosome. (2) Variations in Usp9y and the number of CAG repeats in Sry were significantly associated with...

We report a new finding of the 54-chromosome sibling species of the common vole in East Siberia - the first description from Olkhon Island (Lake Baikal). The karyotype of a male specimen revealed by routine staining and C-banding demonstrates the unambiguous presence of Microtus rossiaemeridionalis Ognev, 1924 (recently often regarded as as junior synonym of Microtus levis Miller, 1908). Compar...

Waardenburg syndrome (WS) is an autosomal dominant disorder characterised by pigmentary abnormalities and sensorineural deafness. It is subcategorised into type 1 (WS1) and type 2 (WS2) on the basis of the presence (WS1) or absence (WS2) of dystopia canthorum. WS1 is always caused by mutations in the PAX3 gene, whereas WS2 is caused by mutations in the microphthalmia (MITF) gene in some but not...