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J M Luciani

Publications and source records attributed to J M Luciani.

At least 37 records · Page 2Linked to original sources

[Estimation of the quality of embryos obtained during fertilization in vitro as a function of their morphology].

Embryo quality after IVF should allow provisions for their pregnancy potential. We have classified all the transferred embryos into 4 types according to morphological criteria and we have studied the implantation rate of the different types. The results show: That pregnancies have been obtained with the 4 types of embryos. That it has been impossible to demonstrate statistically significant differences between the different types of transferred embryos even if embryos morphologically normal seem to be more favourable than others to induce a pregnancy. That the average implantation rate for each transferred embryo is of 14.4%.

Embryo Implantation↗

Direct estimation of the non-disjunction rate at first meiotic division in the human male. Preliminary results.

Chromosomal analysis of 100 second metaphases from 19 men attending an infertility clinic for various reasons was carried out to estimate the rate of non-disjunction occurring at first meiotic division. Second metaphases were selected on the basis of the good spread of their chromosomes. Karyotypes were performed using the relative length of the chromosomes and the centromeric index. Among aneuploid cells, only those containing a hyperhaploid complement (24) were regarded as informative. Of the 100 MII cells, two were hyperhaploid. The frequency of aneuploid MII cells following non-disjunction at first meiotic division is compared to the rate of aneuploid spermatozoa observed after using fertilization of zona-free golden hamster eggs.

Adult↗

Loop formation and synaptic adjustment in a human male heterozygous for two pericentric inversions.

Pachytene analysis was undertaken in an infertile male heterozygous for two pericentric inversions of chromosomes 1 and 9. The synaptic behaviour of the bivalent 1 inversion was the most informative. Analysis of the chromomere pattern combined with centromeric heterochromatin staining allowed precise description of synaptic initiation and extension leading to the homosynapsed loop. These techniques also allowed demonstration of the existence of heterosynapsis following alignment of the inverted segments. Non-homologous synapsed bivalents had the morphological aspects of straight bivalents with two distant blocks of centromeric heterochromatin. The numbering of the autosomal bivalent chromomeres at various successive phases of the inversion loop behaviour of bivalent 1 permitted us an alternative approach to the timing of pachytene.

Adult↗

Random acrocentric bivalent associations in human pachytene spermatocytes. Molecular implications in the occurrence of Robertsonian translocations.

Acrocentric bivalent associations were studied in 232 human male germ cells at pachytene in order to understand better the preferential involvement of chromosomes 13, 14, and 21 in Robertsonian translocations. The tendency of each acrocentric bivalent to associate with another was not correlated with NOR activity, as measured by silver staining. Good agreement was noticed between their ability to associate and the amount of satellite DNA in human acrocentric chromosomes. The distribution of two-by-two acrocentric bivalent associations was random. In order to reconcile this result with the nonrandom distribution of Robertsonian translocations, a molecular hypothesis is proposed. The model is based on homology of recombinational sites, interspersed at regular interval in satellite DNA, which could increase the probability of accidental unequal crossing-over between two specific acrocentric chromosomes.

Aged↗

Meiotic behaviour of familial pericentric inversions of chromosomes 1 and 9.

Pachytene analysis was carried out in two infertile brothers, one heterozygous for two pericentric inversions of chromosomes 1 and 9, the second heterozygous for the pericentric inversion of chromosome 1. The synaptic behaviour of the bivalent 1 inversion was the most informative. Analysis of the chromomere pattern combined with centromeric heterochromatin staining and synaptonemal complexes visualization allowed precise description of synaptic initiation and extension leading to the homosynapsed loop. Heterosynapsis following alignment of the inverted segments was demonstrated. Non-homologous synapsed bivalents had the morphological aspects of straight bivalents with two distant blocks of centromeric heterochromatin. The possible sterilizing effect caused by the autosomal inversion is discussed.

Adult↗

[Chromosome abnormalities in male infertility].

On the basis of systematic cytogenetic studies carried out with men undergoing examination for infertility in the couple, it is now estimated that the incidence of chromosome anomalies is about 5 per cent. This rate is much higher than that observed in the general population (0.7 per cent). Anomalies in the sex chromosomes are the most frequently observed since they represent approximately 4 per cent of the cases, and the analysis of the various types of mutation shows a distinct predominance of the 47 chromosome composition, XXY, which is related to Klinefelter's syndrome. Autosome anomalies are also observed, notably Robertsonian and reciprocal translocations. They are more rare (about 1% of the cases), but the fact that they are linked with disturbances of spermatogenesis is an important element in understanding the control-mechanisms of this process. The occurrence in both man and animals of a non-random relationship between the forms of translocation and the X and Y chromosomes found in the seminal vesicle during the pachytene stage, suggests that this contact interferes with the normal process in which the X chromosome is inactivated. This interference could account for the observed deficits in spermatogenesis. The hypothesis is reinforced by the fact that female carriers of the same autosome translocations, whose two X chromosomes are normally active during the whole miotic prophase, have no fertility problems.

Animals↗

Complete pachytene chromomere karyotypes of human spermatocyte bivalents.

Well-spread human pachytene spermatocyte bivalents were obtained allowing specific identification of each bivalent within its total complement according to its chromomere sequence combined with further staining of its centromeric heterochromatin. The total number of chromomeres was found to be related to the degree of bivalent contraction: 396 in condensed bivalents and 511 in decondensed bivalents. A striking correspondence between chromomeres and mitotic G-bands was observed; on account of the variability of bivalent contraction, condensed bivalents corresponded to prometaphase somatic chromosomes and decondensed bivalents to mid/late prophase chromosomes.

Adult↗

Pachytene analysis of a man with a 13q;14q translocation and infertility. Behavior of the trivalent and nonrandom association with the sex vesicle.

Pachytene analysis was undertaken in a sterile 13q;14q heterozygous translocation carrier in an attempt to follow the segregational behavior of the trivalent and to evaluate the relationship of Robertsonian translocations in man to the impairment of spermatogenesis. Well-spread bivalents from pachytene nuclei were identified by their chromomere patterns. The trivalent was found always in cis configuration. Silver staining demonstrated the loss of nucleolar organizer regions from the translocated chromosomes. A nonrandom association was found between the trivalent configuration and the sex vesicle in 61% of the pachytene nuclei examined. Such an association has been described before in mice heterozygous for Robertsonian or reciprocal translocations, and may thus represent a general phenomenon. As in mice, this contact was restricted to the centromeric region of the trivalent. A hypothesis relating the association of the trivalent with the sex vesicle to impairment of normal X-chromosome inactivation and subsequent spermatogenic breakdown is discussed. Other chromosomal abnormalities in which sex-vesicle anomalies are associated with male sterility (such as X-or Y-autosomal translocations) are also considered. It is proposed that any process interfering with normal X-chromosome inactivation in pachytene spermatocytes could disturb subsequent meiotic or postmeiotic germ cells development.

Adult↗

Structural basis for Robertsonian translocations in man: association of ribosomal genes in the nucleolar fibrillar center in meiotic spermatocytes and oocytes.

The spatial relationships of acrocentric chromosomes were studied during prophase I of meiosis in human oocytes and spermatocytes by using cytogenetic techniques, electron microscopy, and in situ hybridization. Ultrastructural investigations revealed an ordered arrangement of nucleolar bivalents at the zygotene and pachytene stages. The end of the bivalent corresponding to the cytological satellite was consistently attached to the nuclear envelope. The fibrillar center of the nucleolus always contained rDNA chromatin fibers emanating from the secondary constriction region. Association of ribosomal genes from two bivalents in the same fibrillar center was frequently observed. Ultrastructural studies demonstrated the close proximity of chromatids in the short arm region of the involved nonhomologous acrocentrics. A breakage/reunion model based on our data can explain the formation of all observed types of Robertsonian translocations: monocentrics and dicentrics with or without rDNA.

Cell Nucleolus↗

Effects of 9.4 GHz microwave exposure on meiosis in mice.

Exposure to 9.4 GHz pulsed microwaves at low power densities for 1 h/day during 2 weeks induces in adult male Balb/c mice disturbances in meiosis, consisting in an increase of translocations and the appearance of cells with several chromosome pair remaining univalents at MI.

Animals↗

[Do male germ cells begin meiosis during fetal life?].

The existence of a preleptotene chromosome condensation and decondensation stage occuring between the last premeiotic interphase and the leptotene stage was described in numberous plants. This stage was also reported in the human fetal oocyte and in various animals (rabbit, sheep, mouse). A similar process of chromosome condensation was described in the human foetal testis, but in this latter, the decondensation phase leading to leptotene was never observed. According to this observation and to various experimental results from the literature, the preleptotene condensation stage could be related to the processes of meiotic initiation. It could represent a phase of transition between mitotic and meiotic behaviour during which the germinal cell could be sensitive to meiosis-inducing factors. It is suggested that the male germinal cell 46,XY could enter meiosis. This hypothesis is confirmed by the observation of the capacity of the XY germ cell in the mouse to become an oocyte. This capacity is normally not expressed, due to the repressive control of the adjacent Sertoli cells. Thus, stimulation of the germinal cell to enter meiosis could result from environmental factors rather than from a genetic programmation.

Abortion, Spontaneous↗

The meiotic behavior of triploidy in a human 69,XXX fetus.

Meiotic studies were made on the fetal ovaries of a triploid fetus, 69,XXX. The association modalities of the three chromosomes in human triploidy are the same as those described in several plant species; i.e., trivalents, bivalents and univalents can be found in the same nucleus. In most cases of trivalent configuration, the association occurs between pairs.

Azure Stains↗

The use and limitations of chiasma scoring with reference to human genetic mapping.

Human chiasma data are summarized, and some preliminary new observations in fetal oocytes are presented. Male chiasma data may give reliable estimates of genetic lengths, both for individual chromosome arms and for the total autosomal complement. Female data are as yet less accurate and give information according to chromosome group only. Movement of chiasmata before they can be reliably scored is unlikely. In both sexes, chiasmata are seen to be clustered along the length of the chromosomes, which may reflect crossingover interference and a tendency for crossingover to more often take place in certain chromosome segments; there are some indications of sex differences in these preferences.

Chromatids↗

[Oocyte meiosis in a trisomy 18 fetus. Behavior of the supernumerary chromosome and identification of the 18 bivalent].

Associations of the three n degrees 18 chromosomes were studied in a trisomy 18 fetus (the chromosomal constitution of which had been identified by amniocentesis). The three classes of associations observed were those observed in other trisomic organisms:trivalent, trivalent presenting an important asynaptic region, and bivalent accompanied by a univalent. In addition, the sequence was established of chromomeres, the number of which varied from 18 to 23 depending on the degree of chromosome contraction. In elongated pachytene oocyte bivalents each G-band of mitotic metaphase chromosomes could be subdivided into several sub-bands.

Chromosome Banding↗

Pachytene mapping of the C9 and acrocentric bivalents in the human oocyte.

Provisional maps are presented for all acrocentric bivalents and bivalent 9, according to their chromomere patterns at pachytene in the human oocyte. Each G band is subdivided into several sub-bands whose numbers varies according to the degree of chromosomal compacting. Chromomere number and sequence are in basic agreement with those observed in late prophase mitotic chromosomes. Thus, metaphase G bands of mitotic chromosomes result from progressive compressing together of smaller chromomeres whose individuality disappears as chromosomal condensation increases with progression of prophase.

Azure Stains↗