Chromosome (re)positioning in spermatozoa of fathers and sons – carriers of reciprocal chromosome translocation (RCT)

Olszewska, Marta; Wiland, Ewa; Huleyuk, Nataliya; Fraczek, Monika; Midro, Alina T.; Zastavna, Danuta; Kurpisz, Maciej

doi:10.1186/s12920-018-0470-7

Table 2 Linear positioning of centromeres of chromosomes: 4, 7, 8, 9, 10, 11, 18, X and Y in spermatozoa of 13 RCT carriers

From: Chromosome (re)positioning in spermatozoa of fathers and sons – carriers of reciprocal chromosome translocation (RCT)

Chromosome	a - near the acrosome; m - middle; t - near the tail	T1	T2	T3	T4	T5	T6	T7	T8	T9	T10	T11	T12	T13	RCT mean value ± SD [n = 13]	Control mean value ± SD [n = 8]
Chromosome	a - near the acrosome; m - middle; t - near the tail	t(1;11)	t(2;8)	t(2;10)	t(3;9)	t(4;10)	t(4;18)	t(6;14)	t(7;18)	t(11;13)	t(4;5) father	t(4;5) son	t(7;10) father	t(7;10) son	RCT mean value ± SD [n = 13]	Control mean value ± SD [n = 8]
4	a	22.94	18.27	17.87	19.57	17.31	20.95	35.16	29.03	19.77	44.86	43.33	26.48	25.20	25.12 ± 5.56	15.46 ± 2.32
	m	50.15	62.50	53.99	60.14	63.46	58.785	48.35	41.94	54.65	41.12	48.00	55.73	57.22	52.38 ± 6.43	60.11 ± 3.83
	t	26.91	19.23	28.14	20.29	19.23	20.27	16.48	29.03	25.58	14.02	8.67	17.79	17.59	22.50 ± 4.61	24.42 ± 3.88
	p [T vs. C]	0.0632	0.0425^*	0.4572	0.4084	0.4697	0.2613	< 0.0001^*	< 0.0001^*	0.4163	< 0.0001^*	< 0.0001^*	0.0068^*	0.0167^*
	p [f vs. s]										0.1141		0.9483
7	a	36.24	25.2	17.93	33.77	32.33	23.57	34.04	20.51	24.82	27.46	21.29	24.63	26.32	27.22 ± 5.99	19.01 ± 2.94
	m	49.35	56.91	69.66	48.34	47.37	58.57	53.19	64.96	60.28	56.56	57.03	56.72	57.24	56.60 ± 6.90	66.85 ± 1.67
	t	14.41	17.89	12.41	17.88	20.30	17.86	12.77	14.53	14.89	15.98	21.68	18.66	16.45	16.19 ± 2.55	14.14 ± 2.36
	p [T vs. C]	< 0.0001^*	0.1060	0.8224	0.0002^*	0.0001^*	0.2125	0.0006^*	0.9128	0.2921	0.0614	0.0568	0.0982	0.1018
	p [f vs. s]										0.1930		0.8146
8	a	16.05	32.22	13.51	20.95	21.43	14.29	28.57	14.14	26.32	13.13	23.29	21.90	28.13	21.59 ± 6.57	16.57 ± 2.48
	m	57.31	54.44	55.41	50.00	55.19	63.27	51.19	53.54	48.03	61.95	52.97	61.98	53.13	54.86 ± 4.65	59.21 ± 1.76
	t	26.65	13.33	31.08	29.05	23.38	22.45	20.24	32.32	25.66	24.92	23.74	16.12	18.75	23.55 ± 6.11	24.22 ± 3.11
	p [Tvs. C]	0.8517	< 0.0001^*	0.2526	0.1692	0.4216	0.6972	0.0054^*	0.1646	0.0129^*	0.6501	0.1834	0.1026	0.0070^*
	p [f vs. s]										0.0495^*		0.1996
9	a	29.57	26.74	36.42	33.61	31.25	29.75	38.67	20.55	16.78	21.77	31.71	27.74	29.58	29.15 ± 6.35	22.20 ± 1.24
	m	53.48	56.98	49.01	56.30	54.17	54.43	50.67	67.81	59.44	64.25	55.40	57.66	59.15	56.28 ± 5.04	66.77 ± 2.28
	t	16.96	16.28	14.57	10.08	14.58	15.82	10.67	11.64	23.78	13.98	12.89	14.60	11.27	14.57 ± 3.87	11.03 ± 1.45
	p [T vs. C]	0.0160^*	0.0879	0.0006^*	0.0225^*	0.0272^*	0.0313^*	0.0003^*	0.9173	0.0002^*	0.6400	0.0423^*	0.1510	0.1894
	p [f vs. s]										0.0992		0.5667
10	a	29.82	28.72	22.30	22.73	23.61	37.06	45.45	12.34	21.79	18.75	28.12	22.22	23.13	26.29 ± 8.83	26.79 ± 2.16
	m	55.50	56.38	54.68	66.23	58.33	55.24	36.36	71.72	58.97	61.46	56.7	59.48	58.13	57.37 ± 8.66	60.47 ± 2.41
	t	14.68	14.89	23.02	11.04	18.06	7.69	18.18	13.10	19.23	19.79	15.18	18.30	18.75	16.09 ± 4.32	12.74 ± 1.75
	p [T vs. C]	0.5926	0.6775	0.0082^*	0.4989	0.2625	0.0409^*	< 0.0001^*	0.0064^*	0.1178	0.0422^*	0.6810	0.1997	0.1804
	p [f vs. s]										0.0854		0.9618
11	a	24.82	24.55	30.91	23.53	27.97	25.00	30.88	34.21	21.74	23.86	25.87	25.81	29.88	27.21 ± 3.83	23.01 ± 1.93
	m	56.20	70.00	53.94	54.71	54.55	60.00	52.21	51.32	61.74	49.62	54.44	55.38	49.39	56.31 ± 5.77	58.9 ± 1.76
	t	18.98	5.45	15.15	21.76	17.48	15.00	16.91	14.47	16.52	26.52	19.69	18.82	20.73	16.48 ± 4.34	18.1 ± 2.83
	p [T vs. C]	0.8569	0.0040^*	0.1644	0.5944	0.4937	0.6964	0.1712	0.0279^*	0.8416	0.0669	0.6594	0.7484	0.1375
	p [f vs. s]										0.2258		0.4827
18	a	35.86	22.73	25.71	24.83	23.94	24.44	39.49	22.89	21.83	23.58	28.03	15.75	36.81	26.75 ± 7.35	22.75 ± 0.94
	m	46.21	54.55	56.43	57.93	47.18	57.78	47.13	55.42	62.68	60.16	51.51	58.90	48.47	53.88 ± 5.68	57.47 ± 1.55
	t	17.93	22.73	17.86	17.24	28.87	17.78	13.38	21.69	15.49	16.26	20.46	25.34	14.72	19.37 ± 4.76	19.79 ± 1.43
	p [T vs. C]	0.0070^*	0.7464	0.7437	0.7701	0.0480^*	0.8473	0.0003^*	0.8797	0.4858	0.6751	0.3933	0.1536	0.0033^*
	p [f vs. s]										0.2208		< 0.0001^*
X	a	50.00	27.50	34.62	51.80	36.96	44.00	47.33	39.29	41.5	43.02	23.97	21.01	40.44	39.30 ± 9.30	40.77 ± 2.74
	m	44.40	65.00	56.92	44.88	51.45	52.71	43.51	52.68	56.13	45.35	68.49	69.57	47.79	53.98 ± 8.29	53.16 ± 2.40
	t	5.60	7.50	8.46	3.32	11.59	3.29	9.16	8.04	2.37	11.63	7.54	9.42	11.76	7.79 ± 3.28	6.07 ± 2.01
	p [T vs. C]	0.1678	0.0261^*	0.3439	0.0633	0.0662	0.4647	0.1119	0.7056	0.2961	0.0415^*	0.0029^*	0.0003^*	0.0529
	p [f vs. s]										< 0.0001^*		< 0.0001^*
Y	a	40.31	20.75	21.77	46.17	27.74	46.38	37.59	31.40	37.50	32.82	21.71	18.84	34.97	32.72 ± 9.79	32.48 ± 8.52
	m	52.04	60.38	66.13	49.88	56.20	48.42	50.83	61.35	57.42	51.15	61.24	68.84	58.04	56.75 ± 6.65	56.87 ± 7.08
	t	7.65	18.87	12.10	3.95	16.0645	5.20	11.58	7.25	5.08	16.03	17.05	12.32	6.99	10.53 ± 4.82	10.66 ± 3.92
	p [T vs. C]	0.2072	0.0046^*	0.0730	0.0044^*	0.1795	0.0067^*	0.4665	0.4772	0.1571	0.1936	0.0209^*	0.0142^*	0.4775
	p [f vs. s]										0.0246^*		0.0012^*

Frequency (%) of centromeres was estimated in three regions of sperm cell nucleus: ‘a’ – near the acrosome, ‘m’ – its middle part and ‘t’ – near the tail of spermatozoa (according to the scheme presented in Fig. 1a). All RCT results were compared to the mean Control value obtained for 8 healthy donors (p values: T vs. C). Additionally, comparison between fathers and sons in familial RCT cases was performed: 46,XY,t(4;5)(p15.1;p12) (T10 vs. T11) and 46,XY,t(7;10)(p21.1;q26.13) (T12 vs. T13) (p values: f vs. s). One hundred and-fifty of centromeres were counted for each male and per each chromosome. Values p < 0.05 indicated statistically significant differences (two-tailed χ² test) and were marked with ‘*’ in the Table

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