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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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Related in: MedlinePlus

Representative example of PCR analysis in three cases with RSA by AR gene. (A) RSA30 (skewed 56.95%); (B) RSA32 (skewed 88.61%); (C) RSA48, showing homozygosity (not informative); (D) normal male. Lane - and + show PCR amplification before and after HpaII digestion, respectively.
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Figure 2: Representative example of PCR analysis in three cases with RSA by AR gene. (A) RSA30 (skewed 56.95%); (B) RSA32 (skewed 88.61%); (C) RSA48, showing homozygosity (not informative); (D) normal male. Lane - and + show PCR amplification before and after HpaII digestion, respectively.

Mentions: DNA from male control was used as a digestion control, since his X chromosome is always active and unmethylated. Undigested male DNA showed a single band, while digested male DNA showed no PCR products indicating complete digestion by HpaII (Fig. 2D).


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)

Representative example of PCR analysis in three cases with RSA by AR gene. (A) RSA30 (skewed 56.95%); (B) RSA32 (skewed 88.61%); (C) RSA48, showing homozygosity (not informative); (D) normal male. Lane - and + show PCR amplification before and after HpaII digestion, respectively.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 2: Representative example of PCR analysis in three cases with RSA by AR gene. (A) RSA30 (skewed 56.95%); (B) RSA32 (skewed 88.61%); (C) RSA48, showing homozygosity (not informative); (D) normal male. Lane - and + show PCR amplification before and after HpaII digestion, respectively.
Mentions: DNA from male control was used as a digestion control, since his X chromosome is always active and unmethylated. Undigested male DNA showed a single band, while digested male DNA showed no PCR products indicating complete digestion by HpaII (Fig. 2D).

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