A first step toward chromosome analysis by compression algorithms

AbstractThis study aimed to investigate the relationship between genetic ancestry inferred from autosomal and Y chromosome markers and HLA genotypes in patients with Type 1 Diabetes from an admixed Brazilian population. Inference of autosomal ancestry; HLA-DRB1, -DQA1 and -DQB1 typifications; and Y chromosome analysis were performed. European autosomal ancestry was about 50%, followed by approximately 25% of African and Native American. The European Y chromosome was predominant. The HLA-DRB1*03 and DRB1*04 alleles presented risk association with T1D. When the Y chromosome was European, DRB1*03 and DRB1*04 homozygote and DRB1*03/DRB1*04 heterozygote genotypes were the most frequent. The results suggest that individuals from Maranhão have a European origin as their major component; and are patrilineal with greater frequency from the R1b haplogroup. The predominance of the HLA-DRB1*03 and DRB1*04 alleles conferring greater risk in our population and being more frequently related to the ancestry of the European Y chromosome suggests that in our population, the risk of T1D can be transmitted by European ancestors of our process miscegenation. However, the Y sample sizes of Africans and Native Americans were small, and further research should be conducted with large mixed sample sizes to clarify this possible association.

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Y Chromosomes in Male Psychiatric Patients above 180 cm. Tall

The British Journal of Psychiatry ◽

10.1192/bjp.114.517.1589 ◽

1968 ◽

Vol 114 (517) ◽

pp. 1589-1590 ◽

Cited By ~ 15

Author(s):

Johannes Nielsen

Keyword(s):

Chromosome Number ◽

State Hospital ◽

Psychiatric Patients ◽

Chromosome Analysis ◽

Y Chromosomes ◽

Sex Chromatin ◽

Male Patients

All male patients above 180 cm. tall who were resident in the Århus State Hospital on 13 April, 1966, were registered: they numbered 42 out of the total of 440 resident males (8 · 1 per cent.). One patient, a 78-year-old man, died before chromosome analysis was made. Sex-chromatin analysis was made on Feulgenstained buccal smears and chromosome analysis was made on leucocyte cultures according to the method described by Moorhead et al. (1960), slightly modified. Not less than 25 metaphases were counted, at least 15 metaphases with the modal figure and all metaphases with a chromosome number deviating from the modal figures were analysed.

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Male meiosis and pollen morphology in diploid Indonesian wild bananas and cultivars

The Nucleus ◽

10.1007/s13237-021-00350-7 ◽

2021 ◽

Author(s):

Fajarudin Ahmad ◽

Yuyu S. Poerba ◽

Gert H. J. Kema ◽

Hans de Jong

Keyword(s):

Hybrid Sterility ◽

Pollen Grains ◽

Chromosome Analysis ◽

Male Meiosis ◽

Enzyme Treatment ◽

Unreduced Gamete ◽

Ploidy Levels ◽

Scientific Disciplines ◽

Sterile Pollen ◽

Mother Cells

AbstractBreeding of banana is hampered by its genetic complexity, structural chromosome rearrangements and different ploidy levels. Various scientific disciplines, including cytogenetics, linkage mapping, and bioinformatics, are helpful tools in characterising cultivars and wild relatives used in crossing programs. Chromosome analysis still plays a pivotal role in studying hybrid sterility and structural and numerical variants. In this study, we describe the optimisation of the chromosome spreading protocol of pollen mother cells focusing on the effects of standard fixation methods, duration of the pectolytic enzyme treatment and advantages of fluorescence microscopy of DAPI stained cell spreads. We demonstrate the benefits of this protocol on meiotic features of five wild diploid Musa acuminata bananas and a diploid (AA) cultivar banana “Rejang”, with particular attention on pairing configurations and chromosome transmission that may be indicative for translocations and inversions. Pollen slides demonstrate regular-shaped spores except “Rejang”, which shows fertile pollen grains of different size and sterile pollen grains, suggesting partial sterility and unreduced gamete formation that likely resulted from restitutional meiotic divisions.

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Complementarity of interphase and metaphase chromosome analysis in human renal tumors

Genes Chromosomes and Cancer ◽

10.1002/gcc.2870060105 ◽

1993 ◽

Vol 6 (1) ◽

pp. 17-23 ◽

Cited By ~ 23

Author(s):

Sandra R. Wolman ◽

Frederic M. Waldman ◽

Margit Balazs

Keyword(s):

Metaphase Chromosome ◽

Chromosome Analysis ◽

Renal Tumors

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Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR

Reproduction ◽

10.1530/rep.0.1260279 ◽

2003 ◽

pp. 279-297 ◽

Cited By ~ 80

Author(s):

MA Hulten ◽

S Dhanjal ◽

B Pertl

Keyword(s):

Prenatal Diagnosis ◽

Sex Chromosome ◽

Chromosome Analysis ◽

Maternal Serum ◽

Molecular Techniques ◽

Maternal Serum Screening ◽

Advantages And Disadvantages ◽

Microscopy Analysis ◽

Chromosome Disorder

Molecular techniques have been developed for prenatal diagnosis of the most common chromosome disorders (trisomies 21, 13, 18 and sex chromosome aneuploidies) where results are available within a day or two. This involves fluorescence in situ hybridization (FISH) and microscopy analysis of fetal cells or quantitative fluorescence polymerase chain reaction (QF-PCR) on fetal DNA. Guidance is provided on the technological pitfalls in setting up and running these methods. Both methods are reliable, and the risk for misdiagnosis is low, although slightly higher for FISH. FISH is also more labour intensive than QF-PCR, the latter lending itself more easily to automation. These tests have been used as a preamble to full chromosome analysis by microscopy. However, there is a trend to apply the tests as 'stand-alone' tests for women who are at relatively low risk of having a baby with a chromosome disorder, in particular that associated with advanced age or results of maternal serum screening programmes. These women comprise the majority of those currently offered prenatal diagnosis with respect to fetal chromosome disorders and if introduced on a larger scale, the use of FISH and QF-PCR would lead to substantial economical savings. The implication, on the other hand, is that around one in 500 to one in 1000 cases with a mentally and/or physically disabling chromosome disorder would remain undiagnosed.

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