SOMATIC MOSAICISM FOR ANTIGEN A&lt;sub&gt;2&lt;/sub&gt;

Cotterman, C. W.

doi:10.1159/000150891

Cited by 9 publications

(6 citation statements)

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“…The case was considered to be an example of an apparent mutation, and the child in question had major deformities. Cotterman [4] This explanation is analogous to that of the Me gene of the MN system reported by Dunsford et al [6], which conveys both weak M and weak N activity. It is possible that in the SI family the A2Bsi gene formed by the interaction of two genes, A2 and an atypical weak B gene, is an intermediate one, which transmits simultaneously A2 and weak B activity.…”

Section: Discussionsupporting

confidence: 63%

Unusual Inheritance of ABO Group in a Family with Weak B Antigens

Seyfried¹,

Walewska²,

Werblinska³

1964

Vox Sanguinis

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Section: Discussionsupporting

confidence: 63%

Unusual Inheritance of ABO Group in a Family with Weak B Antigens

Seyfried¹,

Walewska²,

Werblinska³

1964

Vox Sanguinis

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“…The case was considered t o be an example of an apparent mutation, and the child in question had major deformities. COTTERMAN [4] described another example, that of an A,B child born to parents of groups A,B and 0. The author's explanation of the abnormality in terms of mosaicism of A, and 0 antigens in the tissues of one parent is not convincing, as the appropriate serological examination do not appear t o have been performed.…”

Section: Discussionmentioning

confidence: 99%

Unusual Inheritance of ABO Group in a Family with Weak B Antigens

Seyfried¹,

Walewska²,

Werblinska³

1964

Vox Sanguinis

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A girl, A. Sl., aged 2 years 6 months, was admitted to the paediatric clinic with vascular thrombocytopathy, and some difficulty was experienced in determining her ABO group, as her cells were grouped as AB, while her serum contained agglutinins active against normal B cells. The child had never previously been transfused.Red cell investigations, carried out in the Department of Serology of the Institute of Haematology yielded the following results :Group A,B, Rh phenotype CcDee, MS, PI+, Kell-, Fya-, Jka+ Cold type anti-B agglutinins, inactive against the patient's own cells, were found in the serum.Blood specimens from the mother and sister of the propositus were then examined, and it was established that both were of group A,B, with anti-A, with anti-B agglutinins present in their serum. The results of further investigation of the blood group antigens were as follows:Mother of the propositus: Group A,B, Rh phenotype CcDee, MNS, P,+, Kell-, Fya-, Jka -.Sister of the propositus: Group AzB, Rh phenotype CcDee, MNS, PI +, Kell-, Fya-, JKa+.The results of a detailed serological investigation of the three individuals, which proved to be very similar, are given below. As the findings revealed certain apparently familial atypical properties of the B antigen, we have called it Bsl. Tests on Red CellsRed cells from the three A,Bsl individuals were tested with a large variety of sera from individual donors (67 anti-B sera, 36 anti-A sera,

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“…[1][2][3] The term "somatic mosaicism" is defined as the presence of multiple populations of cells with distinct genotypes in one person whose developmental lineages trace back to a single fertilized egg. 4 Somatic mosaicism of various genes, including some oncogenes, has been implicated in many diseases. For example, somatic mosaicism for HRAS mutations is found in patients with Costello syndrome.…”

Section: Introductionmentioning

confidence: 99%