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X-chromosome inactivation patterns in Korean women with idiopathic recurrent spontaneous abortion.

Kim JW, Park SY, Kim YM, Kim JM, Han JY, Ryu HM - J. Korean Med. Sci. (2004)

Bottom Line: Recent reports observed a significant association between highly skewed X chromosome and RSA, supporting that X chromosome inactivation might be an important and previously unknown cause of RSA.The frequency of skewed X inactivation between RSA patients and control group was not significantly different (p>0.05).This finding suggests that skewed x chromosome be not associated with unexplained RSA patients.

View Article: PubMed Central - PubMed

Affiliation: Laboratory of Medical Genetics, Samsung Cheil Hospital and Women's Healthcare Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

ABSTRACT
Recurrent spontaneous abortion (RSA) defines as two or more consecutive losses at < or = 20 weeks of gestation and affects an estimated 1 of every 100 couples wishing to have children. However, it remains a poorly understood phenomenon. Recent reports observed a significant association between highly skewed X chromosome and RSA, supporting that X chromosome inactivation might be an important and previously unknown cause of RSA. X-inactivation pattern, using polymeric X-linked women with idiopathic RSA and 80 control subjects with a single successful pregnancy and no history of spontaneous abortion. The ratio of heterozygotes was 68.2% (45/66) in women with RSA and 67.5% (54/80) in control group. Among 45 informative RSA cases, only 1 (2.2%) woman showed extreme skewed X inactivation (> or = 90%) and 4 (8.9%) had mild skewed inactivation (> or = 85%). In 54 heterozygous control subjects, 5 (9.3%) women showed extreme skewed X inactivation and 7 (13.0%) had mild one. The frequency of skewed X inactivation between RSA patients and control group was not significantly different (p>0.05). This finding suggests that skewed x chromosome be not associated with unexplained RSA patients.

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Frequency distribution of X inactivation in 45 heterozygous RSA cases and 54 control females. The skewing values are expressed as the percentage ratio of the predominantly inactive allele to the predominantly active allele and are arranged into 10% intervals.
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Figure 3: Frequency distribution of X inactivation in 45 heterozygous RSA cases and 54 control females. The skewing values are expressed as the percentage ratio of the predominantly inactive allele to the predominantly active allele and are arranged into 10% intervals.

Mentions: We have examined X chromosome inactivation patterns in lymphocytes from 66 female women with idiopathic RSA and 80 control females who had one or more children and no history of spontaneous or elective abortion. Fig. 2 showed the representative examples of results gained by PCR. RSA30 appeared an X inactivation ratio of 56.95%, meaning random X chromosome inactivation (Fig. 2A), RSA32 having skewing ratio of 88.61% was found to show mild skewed inactivation (Fig. 2B), RSA48 having one PCR band was uninformative (Fig 2C), and digested male control showed no PCR products indicating complete digestion by HpaII (Fig. 2D). Of the 66 women with RSA, 45 (45/66, 68.2%) undigested DNA samples showed two PCR bands at the AR STR sites. Fifty-four women (54/80, 67.5%) of 80 control females were informative. The distribution of X inactivation ratios for both patients and controls is shown in Fig. 3.


X-chromosome inactivation patterns in Korean women with idiopathic recurrent spontaneous abortion.

Kim JW, Park SY, Kim YM, Kim JM, Han JY, Ryu HM - J. Korean Med. Sci. (2004)

Frequency distribution of X inactivation in 45 heterozygous RSA cases and 54 control females. The skewing values are expressed as the percentage ratio of the predominantly inactive allele to the predominantly active allele and are arranged into 10% intervals.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2822308&req=5

Figure 3: Frequency distribution of X inactivation in 45 heterozygous RSA cases and 54 control females. The skewing values are expressed as the percentage ratio of the predominantly inactive allele to the predominantly active allele and are arranged into 10% intervals.
Mentions: We have examined X chromosome inactivation patterns in lymphocytes from 66 female women with idiopathic RSA and 80 control females who had one or more children and no history of spontaneous or elective abortion. Fig. 2 showed the representative examples of results gained by PCR. RSA30 appeared an X inactivation ratio of 56.95%, meaning random X chromosome inactivation (Fig. 2A), RSA32 having skewing ratio of 88.61% was found to show mild skewed inactivation (Fig. 2B), RSA48 having one PCR band was uninformative (Fig 2C), and digested male control showed no PCR products indicating complete digestion by HpaII (Fig. 2D). Of the 66 women with RSA, 45 (45/66, 68.2%) undigested DNA samples showed two PCR bands at the AR STR sites. Fifty-four women (54/80, 67.5%) of 80 control females were informative. The distribution of X inactivation ratios for both patients and controls is shown in Fig. 3.

Bottom Line: Recent reports observed a significant association between highly skewed X chromosome and RSA, supporting that X chromosome inactivation might be an important and previously unknown cause of RSA.The frequency of skewed X inactivation between RSA patients and control group was not significantly different (p>0.05).This finding suggests that skewed x chromosome be not associated with unexplained RSA patients.

View Article: PubMed Central - PubMed

Affiliation: Laboratory of Medical Genetics, Samsung Cheil Hospital and Women's Healthcare Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

ABSTRACT
Recurrent spontaneous abortion (RSA) defines as two or more consecutive losses at < or = 20 weeks of gestation and affects an estimated 1 of every 100 couples wishing to have children. However, it remains a poorly understood phenomenon. Recent reports observed a significant association between highly skewed X chromosome and RSA, supporting that X chromosome inactivation might be an important and previously unknown cause of RSA. X-inactivation pattern, using polymeric X-linked women with idiopathic RSA and 80 control subjects with a single successful pregnancy and no history of spontaneous abortion. The ratio of heterozygotes was 68.2% (45/66) in women with RSA and 67.5% (54/80) in control group. Among 45 informative RSA cases, only 1 (2.2%) woman showed extreme skewed X inactivation (> or = 90%) and 4 (8.9%) had mild skewed inactivation (> or = 85%). In 54 heterozygous control subjects, 5 (9.3%) women showed extreme skewed X inactivation and 7 (13.0%) had mild one. The frequency of skewed X inactivation between RSA patients and control group was not significantly different (p>0.05). This finding suggests that skewed x chromosome be not associated with unexplained RSA patients.

Show MeSH
Related in: MedlinePlus