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From the * Institute of Human Genetics, Polish
Academy of Sciences, Pozna
, Poland; and the
Department of Clinical Genetics of the Medical
University of Bia
ystok, Biaystok, Poland.
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Correspondence to: Prof Maciej Kurpisz, Institute of Human Genetics, Polish
Academy of Sciences, ul. Strzeszyska 32, 60-479 Pozna, Poland
(e-mail:
kurpimac{at}man.poznan.pl). |
| Received for publication June 16, 2006; accepted for publication October 2, 2006. |
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Abstract |
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 Top Abstract Materials and MethodsDNA Probes and FISH...ResultsGenetic Risk AssessmentDiscussionReferences |
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Key words: FISH, risk assessment
In the 85 reciprocal translocations in male carriers analyzed to date, the frequency of segregants ranged from 20% to 80% for alternate, from 4% to 63% for adjacent I, from 0% to 40% for adjacent II, from 0% to 40% for 3:1, and from 0% to 4% for 4:0 (Shi and Martin, 2001; Morel et al, 2004b; Benet et al, 2005). It seems that the segregation pattern of translocated chromosomes depends on the morphology and genetic content of the chromosomes involved in the individual chromosomal translocation, as well as on the localization of the breakpoints on particular chromosomes, the length of the interstitial and translocated segments, and the number and localization of the chiasmata. However, the meiotic mechanisms responsible for determining how the chromosomal structural rearrangements segregate remain poorly understood (Goldman and Hulten, 1993). Some authors have suggested that in most cases of balanced chromosomal translocations, no general conclusions can be drawn and each case should be considered individually (Pellestor et al, 1989; Geneix et al, 2002). However, it cannot be excluded that for some chromosomal translocations a common pattern of meiotic segregation exists independently on the participating chromosomes (Estop et al, 1992).
Balanced chromosomal translocations occur in about 0.2% of the neonatal population (Hamerton et al, 1975). Among infertile males with various degrees of oligoasthenoteratozoospermia and among couples with recurrent abortions and/or abnormal offspring, this frequency is about 10-fold higher (Van Assche et al, 1996; Munne et al, 2000; Morel et al, 2004b). The frequency of reproductive failures is strictly related to the production of a high proportion of gametes with an unbalanced genetic complement, and it can reflect the different survival rates of different types of unbalanced embryos or fetuses. However, it is not clear why some carriers of balanced chromosomal translocation are infertile owing to the lack of conception. The variable effects of chromosomal translocation on fertility may be explained by: a) interference with X inactivation, b) contact with the autosome, c) the relative importance of genes that are implicated in the rearrangement, and d) the overall genetic background (Gabriel-Robez and Rumpler, 1996; Olesen et al, 2001). No correlation has been found between RCTs and sperm quality (as evaluated by light microscopy), despite the fact that oligoteratozoospermia has been described in many carriers with different RCTs (Olesen et al, 2001; Pellestor et al, 2001). Ultrastructural sperm anomalies have been observed by electron microscopy in sterile carriers of RCTs (Baccetti et al, 2003).
One purpose of this study was to compare the proportion of genetically unbalanced male gametes as well as the sperm aneuploidies of the father and son, who were the carriers of a familial balanced translocation t(4;5)(p15.1;p12). Triple and/or double color fluorescence in situ hybridization (FISH) was used to study the meiotic segregation patterns and the aneuploidy frequencies of chromosomes 13, 15, 18, 21, X, and Y in both carriers. For comparison, the aneuploidy frequencies of groups of infertile and fertile males were evaluated in parallel. In addition, prediction of the probability rate for unbalanced progeny at birth was attempted, since this could be useful for genetic counseling of this family. The risk assessment for unfavorable pregnancy outcomes in relation to the meiotic pattern of segregation of the carrier of the same translocation may be useful in illustrating the natural selection of unbalanced fetuses and may prove valuable for the genetic counseling of families with similar RCTs.
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Materials and Methods |
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TopAbstractMaterials and MethodsDNA Probes and FISH...ResultsGenetic Risk AssessmentDiscussionReferences |
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Semen Collection and Preparation
The semen samples were collected by masturbation after 5 days of sexual
abstinence. Seminological analyses were performed according to the standard
World Health Organization (WHO) criteria
(1992), whereby normal
seminological parameters according to the restricted criteria of Krüger
(Krüger et al, 1986) were
considered to be: more than 20 x 106 sperm per ml of
ejaculate, 50% of sperm with progressive motility (A + B category), and more
than 30% of sperm with normal morphology or alternatively, more than 14% of
sperm with good morphology. The seminal parameters for the son (carrier 1) and
his father (carrier 2) are shown in Table
1.
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Semen samples from five healthy men with normal karyotypes and proven in vivo fertility were collected as controls. All the controls showed normal seminal parameters (normozoospermia) (WHO, 1992). The ages of the controls ranged from 25 to 36 years. In addition, semen samples were collected from five men with primary idiopathic infertility and normal karyotypes. Their ages ranged from 33 to 45 years. All of these men were chosen from the population described previously (Wiland et al, 2001; Wiland et al, 2002).
Samples of freshly ejaculated sperm were liquefied at room temperature and washed three times in BWW medium (Biggers et al, 1971), then fixed with methanol:acetic acid (3:1) for 20 minutes at –20°C. After two rinses with fresh fixative, the sperm pellets were dropped onto slides, air-dried and stored at –20°C until used. The semen slides were thawed at room temperature and sperm nuclear decondensation was performed by plunging the slides into a solution of 25 mM dithiothreitol (DTT; Sigma Chemical Co, St Louis, Mo) in 0.1 M Tris-HCl (pH 8.5) for 5–10 minutes at 43°C. The slides were rinsed in 2x sodium chloride/sodium citrate (2x SCC; pH 7.0), dehydrated in an ethanol dilution series from 70% to 100%, and air-dried.
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DNA Probes and FISH Procedure |
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TopAbstractMaterials and MethodsDNA Probes and FISH...ResultsGenetic Risk AssessmentDiscussionReferences |
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In parallel to the experiments with the sperm of the son and father (carriers 1 and 2), a control FISH with the same experimental conditions and the same probes was performed on the sperm from five fertile control males and five idiopathically infertile individuals. Only the sperm cells with attached tails were scored. The efficiency of hybridization was about 98.0%. For the fertile control donors, the efficiency of hybridization was calculated by counting the numbers of hybridized spermatozoa with three signals (yellow, red, and green) in the first 500 spermatozoa examined. A minimum of 3500 sperm nuclei per carrier were scored with the aim of analyzing the meiotic segregation pattern. In addition, a minimum of 5000 sperm nuclei/chromosome probes was scored to identify chromosomal aneuploidy in the spermatozoa of each of the examined individuals.
The expected quadrivalent configuration of the translocation at meiosis I with the marked positions of the FISH probes is shown in Figure 2. The segregation patterns were determined by the presence and/or absence of the FISH signals that corresponded to chromosomes 4, 5, der(4), and der(5), as depicted in Figure 2a.
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Probability Rate Estimation for Unfavorable Pregnancy Outcomes for t(4;5)(p15.1;p12) Carriers
The probability rates for unbalanced progeny at birth and in the second
trimester, as well as for miscarriages and stillbirths or early deaths were
predicted according to the methods of Stengel-Rutkowski et al
(1988) and Stene and
Stengel-Rutkowski (1988). As
the number of members of the analyzed pedigree was not sufficient for direct
analysis, we performed an indirect analysis by grouping the pedigree data
collected by Stengel-Rutkowski et al
(1988).
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Results |
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TopAbstractMaterials and MethodsDNA Probes and FISH...ResultsGenetic Risk AssessmentDiscussionReferences |
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The observed frequencies of the spermatozoa karyotypes of carriers 1 and 2 after different types of meiotic segregation are listed in Table 2. For carrier 1, the frequencies of alternate, adjacent I, adjacent II, 3:1 tertiary, and 3:1 interchange segregation were 34.4%, 24.6%, 15.5%, 10.6%, and 9.5%, respectively. For carrier 2, the corresponding frequencies were 34.8%, 23.1%, 17.1%, 11.1%, and 8.6%, respectively. Interestingly, the frequencies of particular sperm karyotypes in the father and son were similar. All possible combinations after 2:2 and 3:1 segregation were observed, and the most common segregation type was alternate segregation. Since triple color FISH probes were used in these experiments, the color patterns for the normal and balanced karyotypes after alternate segregation were identical, so we cannot provide any data on the ratio for this dissection. We found unexplained signals in 5.4% of sperm from carrier 1 and in 5.3% of sperm from carrier 2. In carrier 1 and carrier 2, about 2% of the sperm had no visible signals at all, probably due to hybridization failure. As a consequence of the methodical approach, 4:0 segregants and diploid spermatozoa were indistinguishable. About 1% of the spermatozoa had only 2 yellow signals, which we considered to be artifactual. The remaining unexplained signals were probably the result of recombination, although the triple color FISH did not allow us to determine whether or not interstitial recombination occurred with the alternate, adjacent I, and 3:1 segregations. It was possible to identify only the recombination events in the interstitial segments in adjacent II segregations. However, it should be noted that the genotypes of the unbalanced spermatozoa generated during this event, ie, (4,4) and der(4), der(4) or (5,5) and der(5), der(5), have the same color patterns as some second meiosis abnormalities.
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The frequencies of spermatozoa with hyperhaploidy of chromosomes 13, 15, 18, 21, X, and Y for carrier 1, carrier 2, the group of fertile controls, and the group of idiopathically infertile donors are shown in Table 3. The diploid and disomy rates of all the examined chromosomes were significantly higher for the infertile donors than for the fertile controls. Similarly, the disomy rates of all the examined chromosomes were significantly higher for both carriers than for the fertile controls. However, in comparison to the group of idiopathically infertile males, only the disomy rates for chromosome 15 in carrier 1 and for chromosomes X and Y in carrier 2 were significantly higher. The diploidy rate was significantly higher only for carrier 1 in comparison to the infertile donors.
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Genetic Risk Assessment |
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TopAbstractMaterials and MethodsDNA Probes and FISH...ResultsGenetic Risk AssessmentDiscussionReferences |
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Discussion |
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TopAbstractMaterials and MethodsDNA Probes and FISH...ResultsGenetic Risk AssessmentDiscussionReferences |
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pter and monosomy
5p14pter derived from a paternal t(4;5)(p16;p14) translocation
(Lassota et al, 1991). The
girl with monosomy of the 4p16.3pter segment together with trisomy of
the 5p15.3pter segment had a mild manifestation of Wolf-Hirschhorn
syndrome. The boy with monosomy of the 5p15.3pter segment together with
trisomy of the 4p16.3pter segment experienced a failure to thrive,
developmental delay, microcephaly, horizontal nystagmus, and hypertonicity.
However, the clinical diagnosis of cri du chat syndrome was not suggested
(Qumsiyeh and Stevens, 1993).
Since no unbalanced translocation was found in the live offspring of the
examined family and distinct localizations of the breakpoint positions have
been noticed for the translocations described in the literature as being
similar to the t(4;5)(p15.1;p12) translocations in our family, a direct method
for risk calculation was performed. The empirical data from the available
pedigree of RCTs at risk for each single segment imbalance were considered
separately (Stengel-Rutkowski et al,
1988), and the obtained probability rate was about 1.6% (low
risk). In comparisons of the meiotic segregation patterns of the son and father, the contributions of all the forms of balanced and unbalanced sperm karyotypes were similar but not identical (Table 2). The alternate (34.4% and 34.8%, respectively) and adjacent I (24.6% and 23.1%, respectively) segregants were found to be the most common segregation types, in similarity to the results obtained for most RCTs (Morel et al, 2004a).
Although the models of meiotic segregation for RCT require equal proportions of complementary segregants, which result from the all types of segregation, this type of phenomenon has not been documented experimentally, irrespective of the technique used (heterospecific fecundation or FISH) (Estop et al, 1992; Durak et al, 1999; Olivier-Bonet et al, 2001; Geneix et al, 2002; Trappe et al, 2002; Morel et al, 2004a,c). In addition, in the present study, the two complementary segregants among the unbalanced spermatozoa that resulted from adjacent I, adjacent II, and 3:1 segregations were not found in the theoretically expected ratio of 1:1 (Table 2). There is no clear explanation for this phenomenon. Some authors have discussed the possibility of differences between the frequencies of complementary products, which could result from the viability of the spermatocytes and spermatids according to their chromosomal contents and could represent evidence for the selection of some segregants (Estop et al, 1992; Blanco et al, 1998). It cannot be excluded that some of these differences represent an overestimation of the frequency of some of the FISH signals in the sperm, which could result from technical problems related to the hybridization of the probes, superposition of the signals, and the sizes and intensities of spots, which can vary according to the type of probe applied (Morel et al, 2004).
To date, in only five studies has the intrafamilial variation of meiotic segregation of the same translocation been analyzed, and in each of these families, similar segregation profiles have been detected (Estop et al, 1992; Rousseaux et al, 1995; Cora et al, 2002; Anton et al, 2004; Morel et al, 2004c). The statistically significant differences observed in the interindividual comparisons of 2 t(11;22) carriers are attributable mainly to the high resolution power of the performed study (Anton et al, 2004), in the authors' opinion.
The generally accepted view is that the mode of pairing of balanced chromosomal rearrangements seems to be directly related to the prognosis for carrier fertility and possible anomalies in his progeny (Gabriel-Robez and Rumpler, 1996). In particular, studies on the meiotic segregation patterns of spermatozoa from carriers with apparently identical familial translocations should help us to understand the mechanisms of this segregation. This type of study might also explain why spermatogenesis and/or reproductive failures affect only some of the male carriers with the same familial translocation. Johannisson et al (1988) have described 4 male carriers of a 3-generation family with the t(9;12;13)(q22;q22;q32) translocation who showed differences in fertility. Pachytene analysis of 3 of the carriers (fertile, subfertile, and infertile) showed a similar hexavalent configuration for all three individuals, while the differences in fertility between the two generations remain unexplained. Subsequent studies have shown that carriers in the same family also had similar meiotic segregation patterns. However, the differences in the sperm parameters and reproductive successes of these carriers cannot be explained on the basis of these results (Estop et al, 1992; Morel et al, 2004c). The subfertile statuses of the wives of the carriers have also been taken into account, since in certain families, they accounted for the observed differences in reproductive success. The differences in reproductive failure described above may be the result of additional genetic or environmental factors that modify spermatogenesis in men with identical translocations. In the case of the t(4;5)(p15.1;p12) carriers, we ascertained the intrafamilial variations related to spermatogenesis; only the son exhibited teratozoospermia.
It is known that approximately 30% of the carriers of different reciprocal translocations exhibit aneuploidy of some chromosomes, as opposed to those engaged in a structural rearrangement (reviewed in Shi and Martin, 2001; Gianaroli et al, 2002). It is unclear which of the chromosomal translocations and chromosomes are particularly vulnerable to this effect. Studies of preimplantation genetic diagnosis (PGD) have revealed increased aneuploidy in blastomeres derived from parents with a balanced translocation (Simpson and Bischoff, 2002). For ICE analysis, most often only a limited number of chromosomes has been chosen due to high frequency of trisomy occurring in alive offspring. Adopting these assumptions, we investigated whether the t(4;5)(p15.1;12) translocation had positive interchromosomal effects on chromosomes X,Y, 13, 15, 18, and 21. Since our 2 [t(4; 5)] carriers showed an increase in aneuploidy for different chromosomes (15, X, and Y) (Table 3), it is difficult to argue for an ICE effect in relation to this translocation.
Vegetti et al (2000) and Pellestor et al (2001) have suggested that ICE is restricted to translocation carriers with poor or abnormal spermiograms. It is known that men with a normal somatic karyotype but abnormal spermiograms and/or reproductive failure (also with miscarriages) have significantly higher rates of aneuploidy than fertile controls (reviewed in Shi and Martin, 2001). Therefore, in the present study, we compared the data concerning the rates of aneuploidy of chosen chromosomes in the sperm of our two t(4;5)(p15.1;p12) carriers, not only with data from the group of fertile controls but also with the group of infertile males (Table 3). In comparison with the group of infertile donors, we observed increased aneuploidy of chromosome 15 only for the proband (carrier 1) and increased aneuploidy rates for chromosomes X and Y only for carrier 2 (with normal spermiogram). It cannot be excluded that a higher frequency of disomy of chromosomes X and Y, only in the case of the father, originates from his more advanced age. Some studies have indicated a correlation between the age of the man and an increased frequency of sex chromosome-bearing sperm (Martin et al, 1995; Lowe et al, 2001). Nevertheless, we can only speculate about a possible relationship between teratozoospermia and aneuploidy of chromosome 15 (Carrell et al, 2001). It appears that poor semen quality and the reproductive status of translocation carriers are not exclusively dependent upon the chromosomes involved in the rearrangements and their break-points. Carriers of the same familial translocation show a very similar meiotic segregation pattern, in contrast to the results of their semen analysis, which often reveal marked differences (Morel et al, 2004c).
The meiotic segregation patterns of 85 men who carry different balanced RCTs in autosomes indicate that the meiotic segregation pattern can be specific to a particular translocation (reviewed in Morel et al, 2004b). Recently, it has been shown that there is a lack of intraindividual variation in the unbalanced spermatozoa between different sperm samples of the same individual, when these samples were obtained at intervals of more than 3 months (Morel et al, 2004a). A correlation between the percentage of abnormal spermatozoa and the percentage of abnormal embryos from couples in which the males are translocation carriers, was also observed (Escudero et al, 2003). There are relatively few well-described cases illustrating the natural selection of unbalanced progeny during pregnancy, obtained from pedigree analysis and the results of meiotic segregation patterning (Trappe et al, 2002; Midro et al, 2006). It seems that using a very limited pedigree, information about the meiotic segregation of the translocation carrier together with the database on survival rates of individual forms of combinations of unbalanced karyotypes (in pregnancy), can be quite helpful for individual genetic counseling.
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Acknowledgments |
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Footnotes |
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ystok
grant 306529L. |
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TopAbstractMaterials and MethodsDNA Probes and FISH...ResultsGenetic Risk AssessmentDiscussionReferences |
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| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
—Carrier of
translocation; 
—Miscarriage;
—Normal karyotype.
(c) Schematic of the meiotic quadrivalent configuration with
visualization of the predicted form of imbalance compatible with survival from
2:2 disjunction and adjacent 1 segregation.(d) Predicted assessment of
probability rates for unbalanced offspring at birth, at prenatal diagnosis in
the second trimester, and for miscarriages.