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【目的】分析先天愚型患儿的额外21号染色体的双亲来源和部分环境因素与先天愚型的相关性。【方法】1)应用染色体核型分析技术确定患儿及双亲的染色体核型;2)应用短串联重复序列连锁分析(STR-PCR)技术分析额外21号染色体双亲来源;3)通过问卷调查分析父母的环境因素。【结果】1)在297例先天愚型中三体型、易位型和嵌合型分别占90.2%、5.4%和4.4%。其中男性191例,女性106例,男女比为1.8∶1。患儿就诊年龄在1个月内为23%,1岁内63%,3岁内80%,6岁内达到92%。2)在22例能提供遗传信息的家系中母亲来源的21号额外染色体共21例,占95%(21/22),其中14例能够明确是来源于母亲卵细胞的第一次减数分裂不分离;父亲来源的21号额外染色体仅有1例,占5%(1/22)。3)80例患儿中有71例的母亲生育年龄<35岁,占88.8%(71/80),仅有9例患儿的母亲生育年龄≥35岁,占11.2%(9/80)。父亲吸烟和饮酒在先天愚型组与对照组间的差异无统计学意义(P均>0.05);父母亲化学物质接触在两组间的差异有统计学意义(P均<0.05)。【结论】1)先天愚型的额外21号染色体主要来源于母亲;2)母亲生育年龄不是我国现阶段先天愚型出生的主要因素。3)父亲吸烟和饮酒、父母亲化学物质接触似乎与先天愚型的发生没有直接的关联。
【Objective】 To analyze the relationship between extra parental progeny and some environmental factors of idiotypod in children with idiotypod. 【Method】 1) Chromosomal karyotype analysis was used to identify chromosomes of children and parents; 2) STR-PCR was used to analyze the origin of extra chromosome 21; 3) By means of questionnaire survey Environmental factors of parents. 【Results】 1) The trisomy type, metathesis type and chimera type accounted for 90.2%, 5.4% and 4.4% respectively in 297 cases of Down’s syndrome. There were 191 males and 106 females with a ratio of 1.8: 1. The pediatric age at presentation was 23% within 1 month, 63% within 1 year of age, 80% within 3 years and 92% within 6 years of age. 2) In the 22 families with genetic information, 21 maternal extra chromosomes were found in 21 cases (95%, 21/22), of which 14 cases could be clearly the first meiosis originated from mother’s egg cells Isolated; fathers only 21 extra chromosomes in 1 case, accounting for 5% (1/22). 3) Of the 80 children, 71 had a childbearing age of <35 years, accounting for 88.8% (71/80). Only 9 children had a childbearing age of 35 years or older, accounting for 11.2% (9/80). There was no significant difference in the smoking and alcohol consumption between father group and control group (all P> 0.05). There was significant difference between the two groups in parental chemical exposure (P <0.05). 【Conclusion】 1) The Extra Child 21 chromosome is mainly derived from the mother; 2) The mother’s childbearing age is not the main factor of birth in China at this stage. 3) Father smoking and alcohol consumption, parental chemical exposure does not appear to be directly related to the occurrence of Down’s syndrome.