Spinal muscular atrophy (SMA) is a common autosomal recessive disorder resulting in loss of motor neurons. The interval containing the SMA gene has been defined by linkage analysis as ...5qcen-D5S435-SMA-D5S557-5qter. We have isolated a new dinucleotide repeat marker, CATT1, that lies between these two closest markers. The marker CATT1 has 16 alleles and is highly polymorphic. The marker can have 1 to 4 (or more) copies per chromosome, giving rise to individuals with up to 8 (or more) alleles. All of the subloci map between the markers D5S557 and D5S435 and lie in close proximity to one another. The marker CATT1 is linked to the SMA gene with a lod score of Zmax = 34.42 at theta = 0 and crosses all available recombinants. Certain alleles occurred more frequently in either the SMA or normal populations, indicating significant allelic association between CATT1 and the SMA locus. Haplotype analysis combining U.S. and Canadian SMA families reveals that one haplotype group (VII) occurs significantly more frequently in the SMA population than in the normal. This confirms the allelic association of CATT1 with the SMA locus.
Prometaphase chromosomes from a 16 year old boy with hypogonadotrophic hypogonadism and anosmia (Kallmann syndrome) showed a tiny chromosome fragment attached to the long arm of one chromosome 1 ...without a visible reciprocal translocation chromosome. Chromosome painting with libraries from chromosomes 1 and X excluded a t(X;1) translocation, but failed to detect a second translocation chromosome. Through reverse chromosome painting, an unbalanced der(1), t(1;10) (q44;q26) translocation could be detected. This is the third case of Kallmann syndrome with a de novo rearrangement between two autosomes. The distal long arm of chromosome 1 may contain a candidate locus for a gene, mutations of which may cause the Kallmann phenotype; a 10q location seems less likely.
Gymnotus (Gymnotidae, Gymnotiformes) is the Neotropical electric fish genus with the largest geographic distribution and the largest number of species, 33 of which have been validated. The diploid ...number varies from 2n = 39-40 to 2n = 54. Recently we studied the karyotype of morphologically indistinguishable samples from five populations of G. carapo sensu stricto from the Eastern Amazon of Brazil. We found two cytotypes, 2n = 42 (30 M/SM + 12 ST/A) and 2n = 40 (34 M/SM + 6 ST/A) and we concluded that the differences between the two cryptic species are due to pericentric inversions and one tandem fusion. In this study we use for the first time, whole chromosome probes prepared by FACS of the Gymnotus carapo sensu strictu species, cytotype with 2n = 42. Using two color hybridizations we were able to distinguish pairs 1, 2, 3, 7, 9, 14, 16, 18, 19, 20 and 21. It was not possible to separate by FACS and distinguish each of the following chromosome pairs even with dual color FISH: {4,8}; {10,11}; {5,6,17}; {12,13,15}. The FISH probes were then used in chromosome painting experiments on metaphases of the 2n = 40 cytotype. While some chromosomes show conserved synteny, others are rearranged in different chromosomes. Eight syntenic associations were found. These results show that the karyotype differences between these cryptic species are greater than assumed by classical cytogenetics. These data reinforce the previous supposition that these two cytotypes are different species, despite the absence of morphological differences. Additionally, the homology of repetitive DNA between the two provides evidence of recent speciation.
Gender verification in competitive sports Simpson, J L; Ljungqvist, A; de la Chapelle, A ...
Sports medicine (Auckland),
11/1993, Letnik:
16, Številka:
5
Journal Article
Recenzirano
The possibility that men might masquerade as women and be unfair competitors in women's sports is accepted as outrageous by athletes and the public alike. Since the 1930s, media reports have fuelled ...claims that individuals who once competed as female athletes subsequently appeared to be men. In most of these cases there was probably ambiguity of the external genitalia, possibly as a result of male pseudohermaphroditism. Nonetheless, beginning at the Rome Olympic Games in 1960, the International Amateur Athletics Federation (IAAF) began establishing rules of eligibility for women athletes. Initially, physical examination was used as a method for gender verification, but this plan was widely resented. Thus, sex chromatin testing (buccal smear) was introduced at the Mexico City Olympic Games in 1968. The principle was that genetic females (46,XX) show a single X-chromatic mass, whereas males (46,XY) do not. Unfortunately, sex chromatin analysis fell out of common diagnostic use by geneticists shortly after the International Olympic Committee (IOC) began its implementation for gender verification. The lack of laboratories routinely performing the test aggravated the problem of errors in interpretation by inexperienced workers, yielding false-positive and false-negative results. However, an even greater problem is that there exist phenotypic females with male sex chromatin patterns (e.g. androgen insensitivity, XY gonadal dysgenesis). These individuals have no athletic advantage as a result of their congenital abnormality and reasonably should not be excluded from competition. That is, only the chromosomal (genetic) sex is analysed by sex chromatin testing, not the anatomical or psychosocial status. For all the above reasons sex chromatin testing unfairly excludes many athletes. Although the IOC offered follow-up physical examinations that could have restored eligibility for those 'failing' sex chromatin tests, most affected athletes seemed to prefer to 'retire'. All these problems remain with the current laboratory based gender verification test, polymerase chain reaction based testing of the SRY gene, the main candidate for male sex determination. Thus, this 'advance' in fact still fails to address the fundamental inequities of laboratory based gender verification tests. The IAAF considered the issue in 1991 and 1992, and concluded that gender verification testing was not needed. This was thought to be especially true because of the current use of urine testing to exclude doping: voiding is observed by an official in order to verify that a sample from a given athlete has actually come from his or her urethra. That males could masquerade as females in these circumstances seems extraordinarily unlikely. Screening for gender is no longer undertaken at IAAF competitions.
41 Y-linked DNA probes that detect sequences on the Y chromosome long arm have been used to analyse genomic DNA from a series of 23 patients with deletions of Yq. Southern blot analysis has ...differentiated 15 distinct breakpoints, which divide Yq into 14 mapping intervals. From the pattern of DNA sequences present in each patient, it has been possible to produce a congruent deletion map, with the exception of two cases which are not compatible with the consensus order. These patients can be explained by the presence of inversion polymorphisms on Yq in the general population or by complex rearrangements induced during the formation of the deleted chromosomes. The distribution of sequences on the Y long arm has defined distinct regions of homology with autosomes, the Y short arm and the long and short arms of the X. A number of the patients have been typed for the presence or absence of H-Y antigen (as determined by the cytotoxic T-cell assay) and it has been possible, from analysis of informative cases, to assign the locus to the proximal region of the Yq euchromatin.
The CAG repeats in the Huntington's disease gene were investigated in chromosomes from 71 unrelated schizophrenic persons and 18 patients with schizoaffective disorder in order to determine if any of ...these patients had abnormal expansions. All of the probands had repeat sizes in the normal range (< 35 repeats) and there was no significant difference between the allele distributions of these patients and the normal controls. The families of two patients with 32 repeats and one patient with 34 repeats were investigated further and showed no uniform segregation of the disease with the large repeat alleles. The proband with 34 repeats inherited a chromosome that originally had 36 repeats in her father. The presence of 36 CAG repeats in members of her family and in HD patients suggests that there is an overlap between the normal and Huntington's disease CAG repeat size ranges. The more recently described CCG polymorphism in this gene was also examined in the schizophrenic and schizoaffective persons. All patients had alleles in the normal range.
Using pulsed-field gel electrophoresis and 12 Xp21-derived DNA probes, we have constructed a continuous restriction map spanning more than 4 million base pairs (4 Mbp), including the Duchenne ...muscular dystrophy gene of more than 2 Mbp. This detailed map is part of a less detailed map spanning 10 Mbp, also spanning the genes for glycerol kinase and congenital adrenal hypoplasia, constructed under electrophoresis conditions which separated DNA fragments in the range 200 to 4000 kbp. DNA from three different tissues was analyzed, and differential methylation was observed.
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