Origin of the extra 21st chromosome in 297 cases of Down's syndrome and the correlation between the environmental factors and Down's syndrome
- WANG Hong, JIN Yu-wei, QU Yu-jin, SONG Fang
Author information
+
History
+
Abstract
【Objective】 To analyze the parental origin of the extra 21st chromosome of patients with Down's syndrome (DS) and the correlation between the partial environmental factors and DS. 【Methods】 1)The chromosomal karyotypes of patients and their parents were determined by karyotype analysis technique. 2)The parental origin of extra 21st Chromosome in DS patients were confirmed by short tandem repeat polymerase chain reaction(STR-PCR). 3)The environment factors in parents were surveyed through the retrospective questionnaire. 【Results】 1)Among 297 DS patients, the karyotypes of trisomy, translocation and mosaic accounted for 90.2%, 5.4% and 4.4%, respectively. 2)Clinical analysis: Among 297 DS patients, there were 191 males (64.3%, 191/297) and 106 females (35.7%, 106/297), with a sex ratio of 1.8∶1 (191∶106). The patients whose age at diagnosis were within one month, within one year and within six years accounted for 23%, 63% and 92%, respectively. 3)The 21st extra chromosome origin analysis: The genealogy of genetic information by STR linkage analysis in 22 cases displayed that the 21st extra chromosomes of 21 cases were originated from mothers, amounting for 95% (21/22). Among them, 14 cases were caused by the first division nondisjunction of ovum in patients'mothers. Only one case was originated from the father, accounting for 5% (1/22). 4)Environmental factors investigation in parents: the age of 71 mothers who gave birth were below 35 years old, accounting for 88.8% (71/80). And only 9 mothers were equal to or over 35 years old, accounting for 11.2% (9/80) (P>0.05). There was no statistically significant difference in smoking and drinking between the father group of DS patients and control group. However, statistical significance could be observed between the two groups in exposure to chemical materials of the parents (P<0.05). 【Conclusions】 1)The majority of extra 21st Chromosome of DS patients are originated from their mothers. 2)At present, age of a mother giving birth is not main factor for Down's syndrome. 3)Smoking and drinking of father, exposure to chemical materials of parents seem not to be directly related to the Down's syndrome.
Key words
Down&apos / s syndrom / karyotype analysis / STR linkage analysis
{{custom_sec.title}}
{{custom_sec.title}}
References
[1] 李璞.医学遗传学[M].北京:中国协和医科大学出版社,2003:137-140.
[2] 吴冠云. 基因诊断[M].北京:人民卫生出版社,1988:134-135.
[3] 刘欣,谭辉,徐砚田,等.先天愚型的快速基因诊断[J].临沂医专学报,2001,23(1):81-83.
[4] 张晓珍,霍晓春,余继英,等.江西地区1090例先天愚型的染色体分析[J].中华医学遗传学杂志,2006,23(2):122-124.
[5] 叶月仙,王秀英,刘福民,等.136例先天愚型的临床与染色体分析[J].中国优生与遗传杂志,2000,8(1):36-37.
[6] 刘权章.临床遗传学彩色图谱[M].2版.北京:人民卫生出版社, 2006:23-25.
[7] 王逢会,霍满鹏,蒲力群,等. 21三体综合征的细胞遗传学分析[J].延安大学学报·医学科学版,2007,5(4):1-2.
[8] 丁秀原,宋昉,王红.智力低下或伴畸形患者的细胞遗传学研究[J].中国优生与遗传杂志, 2007,8(1):49-52.
[9] 罗艳,符可鹏.唐氏综合征发病情况点差分析[J].中国妇幼保健, 2009,24:2404-2405.
[2] 吴冠云. 基因诊断[M].北京:人民卫生出版社,1988:134-135.
[3] 刘欣,谭辉,徐砚田,等.先天愚型的快速基因诊断[J].临沂医专学报,2001,23(1):81-83.
[4] 张晓珍,霍晓春,余继英,等.江西地区1090例先天愚型的染色体分析[J].中华医学遗传学杂志,2006,23(2):122-124.
[5] 叶月仙,王秀英,刘福民,等.136例先天愚型的临床与染色体分析[J].中国优生与遗传杂志,2000,8(1):36-37.
[6] 刘权章.临床遗传学彩色图谱[M].2版.北京:人民卫生出版社, 2006:23-25.
[7] 王逢会,霍满鹏,蒲力群,等. 21三体综合征的细胞遗传学分析[J].延安大学学报·医学科学版,2007,5(4):1-2.
[8] 丁秀原,宋昉,王红.智力低下或伴畸形患者的细胞遗传学研究[J].中国优生与遗传杂志, 2007,8(1):49-52.
[9] 罗艳,符可鹏.唐氏综合征发病情况点差分析[J].中国妇幼保健, 2009,24:2404-2405.





